A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa-Reference-Cited by-同舟云学术

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

Published:2010-05 Issue:5 Volume:86 Page:805-812
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Riazuddin S. Amer,Iqbal Muhammad,Wang Yue,Masuda Tomohiro,Chen Yuhng,Bowne Sara,Sullivan Lori S.,Waseem Naushin H.,Bhattacharya Shomi,Daiger Stephen P.,Zhang Kang,Khan Shaheen N.,Riazuddin Sheikh,Hejtmancik J. Fielding,Sieving Paul A.,Zack Donald J.,Katsanis Nicholas

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference16 articles.

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4. Perspective on genes and mutations causing retinitis pigmentosa;Daiger;Arch. Ophthalmol.,2007

5. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa;Kirschner;Hum. Mol. Genet.,1999

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