Article
Identification and characterization of a novel ABCA3 mutation.
Physiological genomics - 8 Jan 2010
Park Sang-Kyu, Amos Louella, Rao Aparna, Quasney Michael W, Matsumura Yoshihiro, Inagaki Nobuya, Dahmer Mary K
Abstract excerpt
Mutations in the gene coding for ATP-binding cassette protein A3 (ABCA3) are recognized as a genetic cause of lung disease of varying severity. Characterization of a number of mutant ABCA3 proteins has demonstrated that the mutations generally affect intracellular localization or the ability of the protein to hydrolyze ATP. A novel heterozygous mutation that results in the substitution of cysteine for arginine at...
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