Xu Ma Fei-Feng Li Shu-Zhen Wang Chang Gao Meng Zhang Si-Quan Zhu
Mol Vis
2008;14:1906-11.
CC BY
https://pubmed.ncbi.nlm.nih.gov/18958306/
Amino Acid Substitution Cataract / congenital Cataract / genetics Eye Proteins / genetics Genes, Dominant Intermediate Filament Proteins / genetics Mutation / genetics
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
PMC2573734
18958306
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts
2008