article_metadata: Xu Ma Fei-Feng Li Shu-Zhen Wang Chang Gao Meng Zhang Si-Quan Zhu
article_metadata: Mol Vis
article_metadata: 2008;14:1906-11.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/18958306/
article_metadata: Amino Acid Substitution Cataract / congenital Cataract / genetics Eye Proteins / genetics Genes, Dominant Intermediate Filament Proteins / genetics Mutation / genetics
article_metadata: Amino Acid Substitution Cataract / congenital Cataract / genetics Eye Proteins / genetics Genes, Dominant Intermediate Filament Proteins / genetics Mutation / genetics Case Reports Research Support, Non-U.S. Gov't Alanine / genetics Amino Acid Sequence Base Sequence Child Chromatography, High Pressure Liquid Chromosomes, Human, Pair 3 / genetics DNA Mutational Analysis Eye Proteins / chemistry Female Genetic Linkage Glycine / genetics Haplotypes Humans Intermediate Filament Proteins / chemistry Lod Score Male Molecular Sequence Data Pedigree Protein Denaturation Sequence Alignment Eye Proteins Intermediate Filament Proteins phakinin Alanine Glycine
article_metadata: PMC2573734
article_metadata: 18958306
article_metadata: A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts
article_metadata: 2008