Clinical utility gene card for: Alstrom syndrome

被引：8

作者：

Marshall, Jan D. ^{[1
]}

Maffei, Pietro ^{[2
]}

Beck, Sebastian

Barrett, Timothy G. ^{[3
]}

Paisey, Richard B. ^{[4
]}

机构：

[1] Jackson Lab, Bar Harbor, ME 04609 USA

[2] Azienda Osped Padova, Clin Med 3, Dipartimento Sci Med & Chirurg, Padua, Italy

[3] Univ Birmingham, Sch Clin & Expt Med, Birmingham, W Midlands, England

[4] Torbay Hosp, Torquay, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2011年 / 19卷 / 10期

关键词：

ALMS1; MUTATION; OBESITY;

D O I：

10.1038/ejhg.2011.72

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：1108 / 1111

页数：3

共 8 条

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[6] Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome [J].

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[7] Syndromic obesity and diabetes:: Changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome [J].

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[8]

*PREV GEN, ALSTR SYNDR VIA ALMS

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