Support of linkage of Gerstmann-Straussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter
Gerstmann-Straussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recom...
Ausführliche Beschreibung
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Englisch |
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1991 |
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Elsevier Journal Backfiles on ScienceDirect 1907 - 2002 |
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Übergeordnetes Werk: |
in: Genomics - Amsterdam : Elsevier, 9(1991), 2, Seite 366-368 |
Übergeordnetes Werk: |
volume:9 ; year:1991 ; number:2 ; pages:366-368 |
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NLEJ184403308 |
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520 | |a Gerstmann-Straussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (θ) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at θ = 0.0. No evidence for linkage heterogeneity was found in the combined data set. | ||
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700 | 1 | |a Goldgaber, D. |4 oth | |
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700 | 1 | |a Roses, A.D. |4 oth | |
700 | 1 | |a Pericak-Vance, M.A. |4 oth | |
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(DE-627)NLEJ184403308 (DE-599)GBVNLZ184403308 DE-627 ger DE-627 rakwb eng Support of linkage of Gerstmann-Straussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter 1991 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Gerstmann-Straussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (θ) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at θ = 0.0. No evidence for linkage heterogeneity was found in the combined data set. Elsevier Journal Backfiles on ScienceDirect 1907 - 2002 Speer, M.C. oth Goldgaber, D. oth Goldfarb, L.G. oth Roses, A.D. oth Pericak-Vance, M.A. oth in Genomics Amsterdam : Elsevier 9(1991), 2, Seite 366-368 (DE-627)NLEJ17700861X (DE-600)1468023-3 0888-7543 nnns volume:9 year:1991 number:2 pages:366-368 http://dx.doi.org/10.1016/0888-7543(91)90266-H GBV_USEFLAG_H ZDB-1-SDJ GBV_NL_ARTICLE AR 9 1991 2 366-368 |
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(DE-627)NLEJ184403308 (DE-599)GBVNLZ184403308 DE-627 ger DE-627 rakwb eng Support of linkage of Gerstmann-Straussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter 1991 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Gerstmann-Straussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (θ) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at θ = 0.0. No evidence for linkage heterogeneity was found in the combined data set. Elsevier Journal Backfiles on ScienceDirect 1907 - 2002 Speer, M.C. oth Goldgaber, D. oth Goldfarb, L.G. oth Roses, A.D. oth Pericak-Vance, M.A. oth in Genomics Amsterdam : Elsevier 9(1991), 2, Seite 366-368 (DE-627)NLEJ17700861X (DE-600)1468023-3 0888-7543 nnns volume:9 year:1991 number:2 pages:366-368 http://dx.doi.org/10.1016/0888-7543(91)90266-H GBV_USEFLAG_H ZDB-1-SDJ GBV_NL_ARTICLE AR 9 1991 2 366-368 |
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(DE-627)NLEJ184403308 (DE-599)GBVNLZ184403308 DE-627 ger DE-627 rakwb eng Support of linkage of Gerstmann-Straussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter 1991 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Gerstmann-Straussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (θ) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at θ = 0.0. No evidence for linkage heterogeneity was found in the combined data set. Elsevier Journal Backfiles on ScienceDirect 1907 - 2002 Speer, M.C. oth Goldgaber, D. oth Goldfarb, L.G. oth Roses, A.D. oth Pericak-Vance, M.A. oth in Genomics Amsterdam : Elsevier 9(1991), 2, Seite 366-368 (DE-627)NLEJ17700861X (DE-600)1468023-3 0888-7543 nnns volume:9 year:1991 number:2 pages:366-368 http://dx.doi.org/10.1016/0888-7543(91)90266-H GBV_USEFLAG_H ZDB-1-SDJ GBV_NL_ARTICLE AR 9 1991 2 366-368 |
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(DE-627)NLEJ184403308 (DE-599)GBVNLZ184403308 DE-627 ger DE-627 rakwb eng Support of linkage of Gerstmann-Straussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter 1991 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Gerstmann-Straussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (θ) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at θ = 0.0. No evidence for linkage heterogeneity was found in the combined data set. Elsevier Journal Backfiles on ScienceDirect 1907 - 2002 Speer, M.C. oth Goldgaber, D. oth Goldfarb, L.G. oth Roses, A.D. oth Pericak-Vance, M.A. oth in Genomics Amsterdam : Elsevier 9(1991), 2, Seite 366-368 (DE-627)NLEJ17700861X (DE-600)1468023-3 0888-7543 nnns volume:9 year:1991 number:2 pages:366-368 http://dx.doi.org/10.1016/0888-7543(91)90266-H GBV_USEFLAG_H ZDB-1-SDJ GBV_NL_ARTICLE AR 9 1991 2 366-368 |
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(DE-627)NLEJ184403308 (DE-599)GBVNLZ184403308 DE-627 ger DE-627 rakwb eng Support of linkage of Gerstmann-Straussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter 1991 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Gerstmann-Straussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (θ) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at θ = 0.0. No evidence for linkage heterogeneity was found in the combined data set. Elsevier Journal Backfiles on ScienceDirect 1907 - 2002 Speer, M.C. oth Goldgaber, D. oth Goldfarb, L.G. oth Roses, A.D. oth Pericak-Vance, M.A. oth in Genomics Amsterdam : Elsevier 9(1991), 2, Seite 366-368 (DE-627)NLEJ17700861X (DE-600)1468023-3 0888-7543 nnns volume:9 year:1991 number:2 pages:366-368 http://dx.doi.org/10.1016/0888-7543(91)90266-H GBV_USEFLAG_H ZDB-1-SDJ GBV_NL_ARTICLE AR 9 1991 2 366-368 |
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Support of linkage of Gerstmann-Straussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter |
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support of linkage of gerstmann-straussler-scheinker syndrome to the prion protein gene on chromosome 20p12-pter |
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Support of linkage of Gerstmann-Straussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter |
abstract |
Gerstmann-Straussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (θ) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at θ = 0.0. No evidence for linkage heterogeneity was found in the combined data set. |
abstractGer |
Gerstmann-Straussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (θ) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at θ = 0.0. No evidence for linkage heterogeneity was found in the combined data set. |
abstract_unstemmed |
Gerstmann-Straussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have obtained a peak lod score of 1.15 at a recombination fraction (θ) of 0.00. This result provides additional evidence that GSS is linked to a mutation in codon 102 of the PRNP gene. Combining our data with linkage data previously reported yields a peak lod score of 4.52 at θ = 0.0. No evidence for linkage heterogeneity was found in the combined data set. |
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Support of linkage of Gerstmann-Straussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter |
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