The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
Abstract
Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.
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Cites
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Probable linkage between a congenital cataract locus and the Duffy blood group locus
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A frameshift mutation in the γE–crystallin gene of the Elo mouse
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The Biology of Proteostasis in Aging and Disease
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A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy
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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
Irobi, J., Impe, K. V., Seeman, P., Jordanova, A., Dierick, I., Verpoorten, N., Michalik, A., Vriendt, E. D., Jacobs, A., Gerwen, V. V., et al. (2004) · Nature Genetics · doi:10.1038/ng1328 · Cited by 416
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Metadata
- Authors
- Litt, M.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1998-03-01
- Volume
- 7
- Issue
- 3
- Pages
- 471-474
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2115644880
- Cited by
- 447
- References
- 13
- FWCI
- 7.20
- Type
- journal article
- Language
- en
- Open access
- closed
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- Litt, M. (1998). Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Human Molecular Genetics. https://doi.org/10.1093/hmg/7.3.471
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
