A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy-Reference-Cited by-同舟云学术

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

Published:2001-01 Issue:1 Volume:27 Page:89-93
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Zhang Kang,Kniazeva Marina,Han Min,Li Wen,Yu Zhengya,Yang Zhenglin,Li Yang,Metzker Michael L.,Allikmets Rando,Zack Donald J.,Kakuk Laura E.,Lagali Pamela S.,Wong Paul W.,MacDonald Ian M.,Sieving Paul A.,Figueroa David J.,Austin Christopher P.,Gould Robert J.,Ayyagari Radha,Petrukhin Konstantin

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0101_89.pdf

Reference30 articles.

1. Stone, E.M. et al. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch. Ophthalmol. 112, 765–772 (1994).

2. Edwards, A.O. et al. Autosomal dominant Stargardt-like macular dystrophy: I. clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. Am. J. Ophthalmol. 127, 426–435 (1999).

3. Griesinger, I.B., Sieving, P.A. & Ayyagari, R. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest. Ophthalmol. Vis. Sci. 41, 248–255 (2000).

4. Lagali, P.S. et al. Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family. Can. J. Ophthalmol. 5, 315–324 (2000).

5. Oh, C.S., Toke, D.A., Mandala, S. & Martin, C.E. ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation. J. Biol. Chem. 272, 17376–17384 (1997).

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