TMEM231Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family-Reference-Cited by-同舟云学术

TMEM231Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family

Published:2016-08-21 Issue:11 Volume:37 Page:1144-1148
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Maglic Dino¹²,Stephen Joshi¹,Malicdan May Christine V.¹²,Guo Jennifer¹,Fischer Roxanne¹,Konzman Daniel¹,Mullikin James C.³,Gahl William A.¹²⁴,Vilboux Thierry¹⁵,Gunay-Aygun Meral¹,

Affiliation:

1. Medical Genetics Branch; National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

2. NIH Undiagnosed Diseases Program; Common Fund; Office of the Director; National Institutes of Health; Bethesda Maryland

3. NIH Intramural Sequencing Center and Comparative Genomics Unit; Genome Technology Branch; National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

4. Office of the Clinical Director; NHGRI; National Institutes of Health; Bethesda Maryland

5. Inova Translational Medicine Institute; Falls Church Virginia

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23054/fullpdf

Reference19 articles.

1. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies;Adams;J Med Genet,2008