A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q
Autosomal dominant cataract is a clinically and genetically heterogeneous lens disorder that usually presents as a sight-threatening trait in childhood. Here we have mapped dominant pulverulent cataract to the β-crystallin gene cluster on chromosome 22q11.2. Suggestive evidence of linkage was detect...
Sábháilte in:
| Foilsithe in: | Am J Hum Genet |
|---|---|
| Príomhchruthaitheoirí: | , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Elsevier
2002
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| Ábhair: | |
| Rochtain ar líne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC385100/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12360425/ https://ncbi.nlm.nih.govhttps://doi.org/10.1086/344212 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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