Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis | Zendy

Simovich Marcia J. | Zendy; Miller Beverly | Zendy; Ezzeldin Hany | Zendy; Kirkland Bryan T. | Zendy; McLeod Genevieve | Zendy; Fulmer Chere | Zendy; Nathans Jeremy | Zendy; Jacobson Samuel G. | Zendy; Pittler Steven J. | Zendy

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Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

Author(s) -

Simovich Marcia J.,

Miller Beverly,

Ezzeldin Hany,

Kirkland Bryan T.,

McLeod Genevieve,

Fulmer Chere,

Nathans Jeremy,

Jacobson Samuel G.,

Pittler Steven J.

Publication year - 2001

Publication title -

human mutation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.981

H-Index - 162

eISSN - 1098-1004

pISSN - 1059-7794

DOI - 10.1002/humu.1168

Subject(s) - rpe65 , visual phototransduction , biology , retinitis pigmentosa , genetics , cis trans isomerases , gene , hum , mutation , retinal , genetic enhancement , art , peptidylprolyl isomerase , biochemistry , isomerase , performance art , art history

Leber congenital amaurosis (LCArpar; is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have so far been shown to account for ∼10 % of known cases of LCA. Here we describe four additional novel mutations in the RPE65 gene (c.889delA, c.131G>A, c.1249G>C, c.430T>G) and several novel polymorphisms in a large series of LCA patients. Hum Mutat 18:164, 2001. © 2001 Wiley‐Liss, Inc.

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