A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract

PURPOSE: To identify the gene responsible for autosomal dominant lamellar pulverulent cataract in a four‐generation British family and characterise the functional and cellular consequences of the mutation. METHODS: Linkage analysis was used to identify the disease locus. The GJA8 gene was sequenced...

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Hlavní autoři: Arora, A, Minogue, P J, Liu, X, Reddy, M A, Ainsworth, J R, Bhattacharya, S S, Webster, A R, Hunt, D M, Ebihara, L, Moore, A T, Beyer, E C, Berthoud, V M
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2006
Témata:
Electronic Letter
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564510/
https://ncbi.nlm.nih.gov/pubmed/16397066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.034108
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