Identification and characterization of a novel ABCA3 mutation
نویسندگان
چکیده
منابع مشابه
Identification and characterization of a novel ABCA3 mutation.
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 cyste...
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ژورنال
عنوان ژورنال: Physiological Genomics
سال: 2010
ISSN: 1094-8341,1531-2267
DOI: 10.1152/physiolgenomics.00123.2009