Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts
نویسندگان
چکیده
منابع مشابه
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.19 at recombination fraction theta=0) was obtained for marker D2S2208 near the gamma-crystallin gene (CRYG) cluster. Sequencing of the coding ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.4.262