CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia

Genetic analysis of a large Indian family with an autosomal dominant cataract phenotype allowed us to identify a novel cataract gene, CRYBA4. After a genomewide screen, linkage analysis identified a maximum LOD score of 3.20 (recombination fraction [θ] 0.001) with marker D22S1167 of the β-crystallin...

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Veröffentlicht in:	American journal of human genetics 2006-10, Vol.79 (4), p.702-709
Hauptverfasser:	Billingsley, Gail, Santhiya, Sathiyavedu T., Paterson, Andrew D., Ogata, Koji, Wodak, Shoshana, Hosseini, S. Mohsen, Manisastry, Shyam Manohar, Vijayalakshmi, Perumalsamy, Gopinath, Pudhiya Mundyat, Graw, Jochen, Héon, Elise
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence Amino Acid Substitution beta-Crystallin A Chain - chemistry beta-Crystallin A Chain - genetics Biological and medical sciences Cataract - genetics Cataracts Exons Family Female Genealogy General aspects. Genetic counseling Genes, Dominant Genetic linkage Genetic markers Genome, Human Genomics Humans Lens diseases Lod Score Male Malformations of the eye Medical genetics Medical sciences Microphthalmos - genetics Microsatellite Repeats Models, Molecular Mutation Ophthalmology Pathology Pedigree Protein Structure, Secondary Sequence Alignment
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