[A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis].

Abstract excerpt

OBJECTIVE: To identify the mutation of solute carrier family 34 member 2 (SLC34A2) gene in a Chinese family with pulmonary alveolar microlithiasis (PAM). METHODS: Genomic DNA was extracted from the family members. DNA sequencing was carried out to confirm the mutation detected by polymerase chain reaction-single strand conformation polymorphisms (PCR-SSCP). The fragments with variation were screened in 100...

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