De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

Carole L Freund; Qing-Liang Wang; Brenda L Muskat; Carmella D Wiles; Shiming Chen; Val C Sheffield; Samuel G Jacobson; Roderick R McInnes; Donald J Zack; Edwin M Stone

doi:10.1038/ng0498-311

Letter/Communication

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

Carole L Freund, Qing-Liang Wang, Brenda L Muskat, Carmella D Wiles, Shiming Chen, Val C Sheffield, Samuel G Jacobson, Roderick R McInnes, Donald J Zack and Edwin M Stone

Nature genetics, Vol.18(4), pp.311-312

04/1998

DOI: 10.1038/ng0498-311

PMID: 9537410

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Abstract

Mutation - physiology

Blindness - physiopathology

Humans

Trans-Activators - genetics

Genes - genetics

Family Health

Blindness - congenital

Mutation - genetics

Blindness - genetics

Homeodomain Proteins - genetics

Details

Title: Subtitle: De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
Creators: Carole L Freund
Qing-Liang Wang
Brenda L Muskat
Carmella D Wiles
Shiming Chen
Val C Sheffield
Samuel G Jacobson
Roderick R McInnes
Donald J Zack
Edwin M Stone
Resource Type: Letter/Communication
Publication Details: Nature genetics, Vol.18(4), pp.311-312
DOI: 10.1038/ng0498-311
PMID: 9537410
NLM abbreviation: Nat Genet
ISSN: 1061-4036
eISSN: 1546-1718
Publisher: United States
Grant note: EY09769 / NEI NIH HHS EY01765 / NEI NIH HHS EY-05627 / NEI NIH HHS F32 EY006614 / NEI NIH HHS
Language: English
Date published: 04/1998
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979972602771

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