Whole exome sequencing identifies three novel mutations inANTXR1in families with GAPO syndrome-Reference-Cited by-同舟云学术

Whole exome sequencing identifies three novel mutations inANTXR1in families with GAPO syndrome

Published:2014-07-14 Issue:9 Volume:164 Page:2328-2334
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bayram Yavuz¹,Pehlivan Davut¹,Karaca Ender¹,Gambin Tomasz¹,Jhangiani Shalini N.²,Erdin Serkan³,Gonzaga-Jauregui Claudia¹,Wiszniewski Wojciech¹,Muzny Donna²,Elcioglu Nursel H.⁴,Yildirim M. Selman⁵,Bozkurt Banu⁶,Zamani Ayse Gul⁵,Boerwinkle Eric²⁷,Gibbs Richard A.²,Lupski James R.¹²⁸⁹,

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

2. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

3. Center for Human Genetic Research; Massachusetts General Hospital; Boston Massachusetts

4. Department of Pediatric Genetics; Marmara University Medical Faculty; Istanbul Turkey

5. Department of Genetics; Meram Medical Faculty; Necmettin Erbakan University; Konya Turkey

6. Department of Ophthalmology; Selcuk University Medical Faculty; Konya Turkey

7. Human Genetics Center; University of Texas Health Science Center at Houston; Houston Texas

8. Department of Pediatrics; Baylor College of Medicine; Houston Texas

9. Texas Children's Hospital; Houston Texas

Funder

United States National Human Genome Research Institute/National Heart Blood and Lung Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36678/fullpdf

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