OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina-Reference-Cited by-同舟云学术

OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina

Published:2014-01-16 Issue:2 Volume:128 Page:137-148
ISSN:0012-4486
Container-title:Documenta Ophthalmologica
language:en
Short-container-title:Doc Ophthalmol

Author:

Katagiri Satoshi,Gekka Tamaki,Hayashi Takaaki,Ida Hiroyuki,Ohashi Toya,Eto Yoshikatsu,Tsuneoka Hiroshi

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Sensory Systems,Ophthalmology

Link

http://link.springer.com/content/pdf/10.1007/s10633-014-9426-1.pdf

Reference45 articles.

1. Mitchell GA, Looney JE, Brody LC, Steel G, Suchanek M, Engelhardt JF, Willard HF, Valle D (1988) Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene. J Biol Chem 263:14288–14295

2. Ramesh V, Benoit LA, Crawford P, Harvey PT, Shows TB, Shih VE, Gusella JF (1988) The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. Am J Hum Genet 42:365–372

3. Wu J, Ramesh V, Kidd JR, Castiglione CM, Myers S, Carson N, Anderson L, Gusella JF, Simpson NE, Kidd KK (1988) The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10. Cytogenet Cell Genet 48:126–127

4. Takki K (1974) Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Br J Ophthalmol 58:3–23

5. McCulloch C, Marliss EB (1975) Gyrate atrophy of the choroid and retina with hyperornithinemia. Am J Ophthalmol 80:1047–1057

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