Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome-Reference-Cited by-同舟云学术

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

Published:2012-08-06 Issue:12 Volume:33 Page:1656-1664
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Smith Holly,Galmes Romain,Gogolina Ekaterina,Straatman-Iwanowska Anna,Reay Kim,Banushi Blerida,Bruce Christopher K.,Cullinane Andrew R.,Romero Rene,Chang Richard,Ackermann Oanez,Baumann Clarisse,Cangul Hakan,Cakmak Celik Fatma,Aygun Canan,Coward Richard,Dionisi-Vici Carlo,Sibbles Barbara,Inward Carol,Ae Kim Chong,Klumperman Judith,Knisely A. S.,Watson Steven P.,Gissen Paul

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

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3. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization;Cullinane;Nat Genet,2010

4. Convergence and divergence in the mechanism of SNARE binding by Sec1/Munc18-like proteins;Dulubova;Proc Natl Acad Sci U S A,2003

5. LOVD v.2.0: the next generation in gene variant databases;Fokkema;Hum Mutat,2011

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