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PMID: 9425888 Published · ppublish English Letter Research Support, Non-U.S. Gov't Comment

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.

Nature genetics ·Vol. 18 ·No. 1 ·1998-01-00 ·Pages 11-2

Martínez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzàlez-Duarte R, Balcells S

Abstract

暂无摘要

MeSH Terms

ATP-Binding Cassette Transporters/genetics Female Frameshift Mutation Genes, Recessive Homozygote Humans Macular Degeneration/genetics Male Pedigree Retinitis Pigmentosa/genetics

Chemicals

ABCA4 protein, human ATP-Binding Cassette Transporters

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Martínez-Mir A

Paloma E

Allikmets R

Ayuso C

del Rio T

Dean M

Vilageliu L

Gonzàlez-Duarte R

Balcells S

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0198-11

Published

1998-01-00

Pages

11-2

Language

English

Region

United States

NLM ID

9216904

Subset

Corrections

CommentOn

PMID: 9054934

External Links

PubMed source DOI: 10.1038/ng0198-11 View journal details

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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.

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