15号染色体上Angelman/Prader-Willi区域（AS/PWS）中γ-氨基丁酸A型受体β3（GABRB3）基因座的二核苷酸重复多态性。 - Suppr

Suppr

超能文献

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.

作者信息

Mutirangura A, Ledbetter S A, Kuwano A, Chinault A C, Ledbetter D H

机构信息

Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.

出版信息

Hum Mol Genet. 1992 Apr;1(1):67. doi: 10.1093/hmg/1.1.67.

DOI:10.1093/hmg/1.1.67

PMID:1338690

Abstract

摘要

相似文献

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.15号染色体上Angelman/Prader-Willi区域（AS/PWS）中γ-氨基丁酸A型受体β3（GABRB3）基因座的二核苷酸重复多态性。

Hum Mol Genet. 1992 Apr;1(1):67. doi: 10.1093/hmg/1.1.67.

Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.

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Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.通过酵母人工染色体克隆和荧光原位杂交分析对普拉德-威利/安吉尔曼综合征区域（15q11 - 13）进行分子剖析。

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Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression.与15q11 - 13连锁的非缺失型天使综合征由母系而非父系遗传导致表型表达。

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Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.将编码γ-氨基丁酸A型受体β3亚基的基因定位于人类15号染色体的天使综合征/普拉德-威利区域。

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Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.普拉德-威利/安吉尔曼关键区域（15q11-q13）中三个二核苷酸重复序列的多重聚合酶链反应：单亲二体的分子诊断及机制

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Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.非洲南部黑人中的赤褐色眼皮肤白化病是由TYRP1基因突变引起的。

Am J Hum Genet. 1997 Nov;61(5):1095-101. doi: 10.1086/301603.

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J Med Genet. 1997 Aug;34(8):651-5. doi: 10.1136/jmg.34.8.651.

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