Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
Article Abstract:
The genetic defect in a consanguineous Leber congenital amaurosis (LCA) affected family from Quebec is localized and a splice defect in a gene encoding a centrosomal protein (CEP290) is identified. It is determined that CEP290 mutations are one of the most frequent causes of LCA.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
Health aspects, Causes of, Risk factors, Genetic aspects, Centrosomes, Centrosome, Leber's congenital amaurosis
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
User Contributions:
Comment about this article or add new information about this topic:
Arts syndrome is caused by loss-of-function mutations in PRPS1
Article Abstract:
The article highlights that phosphoribosyl pyrophosphate synthetase 1 gene loss-of-function mutations cause arts syndrome.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Pyrophosphates
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
User Contributions:
Comment about this article or add new information about this topic:
Subjects list: Research, Gene mutations, Gene mutation
Similar abstracts:
- Abstracts: Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
- Abstracts: Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.