新型人类病理突变。基因符号：CRB1。疾病：莱伯先天性黑矇。 - Suppr

Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.

作者信息

Vallespin Elena, Avila-Fernandez A, Velez-Monsalve C, Almoguera B, Martinez-Garcia M, Gomez-Dominguez B, Gonzalez-Roubaud C, Cantalapiedra D, Trujillo-Tiebas M J, Ayuso C

出版信息

Hum Genet. 2010 Jan;127(1):119.

PMID:20108431

Abstract

摘要

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Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.

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Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.

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Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.

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