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

M. J. Simovich; B. Miller; H. Ezzeldin; B. T. Kirkland; G. McLeod; C. Fulmer; J. Nathans; S. G. Jacobson; S. J. Pittler

doi:10.1002/humu.1168

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

M. J. Simovich, B. Miller, H. Ezzeldin, B. T. Kirkland, G. McLeod, C. Fulmer, J. Nathans, S. G. Jacobson, S. J. Pittler

Research output: Contribution to journal › Article › peer-review

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Abstract

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 approximately 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.

Original language	English (US)
Pages (from-to)	164
Number of pages	1
Journal	Human mutation
Volume	18
Issue number	2
DOIs	https://doi.org/10.1002/humu.1168
State	Published - Aug 2001
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.",

abstract = "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 approximately 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.",

author = "Simovich, {M. J.} and B. Miller and H. Ezzeldin and Kirkland, {B. T.} and G. McLeod and C. Fulmer and J. Nathans and Jacobson, {S. G.} and Pittler, {S. J.}",

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AU - Simovich, M. J.

AU - Miller, B.

AU - Ezzeldin, H.

AU - Kirkland, B. T.

AU - McLeod, G.

AU - Fulmer, C.

AU - Nathans, J.

AU - Jacobson, S. G.

AU - Pittler, S. J.

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PY - 2001/8

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N2 - 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 approximately 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.

AB - 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 approximately 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.

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

Abstract

ASJC Scopus subject areas

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