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Frequency of the mdr-1 C > T gene polymorphism in patients with COPD
(HOSPITAL CLINICAS, UNIV SAO PAULO, 2010)
BACKGROUND AND AIM: The multi-drug resistant-1 (MDR-1) gene is located on human chromosome 7 and encodes a glycosylated membrane protein that is a member of the ATP-binding cassette transporters superfamily. The aim of the ...
A Frame-Shift Mutation in the SLC34A2 Gene in Three Patients with Pulmonary Alveolar Microlithiasis in an Inbred Family
(JAPAN SOC INTERNAL MEDICINE, 2010)
Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the presence of small calculi in the alveolar space. The SLC34A2 is thought to be responsible for the disease. We encountered three siblings of an ...