A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1-Reference-Cited by-同舟云学术

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

Published:2010-06-23 Issue:11 Volume:18 Page:1236-1242
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Marques-Pinheiro Alice, ,Marduel Marie,Rabès Jean-Pierre,Devillers Martine,Villéger Ludovic,Allard Delphine,Weissenbach Jean,Guerin Maryse,Zair Yassine,Erlich Danièle,Junien Claudine,Munnich Arnold,Krempf Michel,Abifadel Marianne,Jaïs Jean-Philippe,Boileau Catherine,Varret Mathilde

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201094.pdf

Reference36 articles.

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2. Brown MS, Goldstein JL : A receptor-mediated pathway for cholesterol homeostasis. Science 1986; 232: 34–37.

3. Soria LF, Ludwig EH, Clarke HR, Vega GL, Grundy SM, McCarthy BJ : Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci USA 1989; 86: 587–591.

4. Varret M, Rabes JP, Saint-Jore B et al: A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. Am J Hum Genet 1999; 64: 1378–1387.

5. Abifadel M, Varret M, Rabes JP et al: Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003; 34: 154–156.

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