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A novel mutation at the JK locus causing Jknullphenotype in a Chinese family

โœ Scribed by Yan Meng; Xueyan Zhou; Yang Li; Dan Zhao; Shuyuan Liang; Xuejian Zhao; Baoxue Yang

Book ID
111785103
Publisher
Science in China Press (SCP)
Year
2005
Tongue
English
Weight
639 KB
Volume
48
Category
Article
ISSN
1674-7305

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To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family, molecular genetic investigation via haplotype analysis and direct sequencing were performed Sequencing of the __CRYGD__ gene revealed a c.127T>C transition, which resulted in a substitu