Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene
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DOI: 10.3389/fped.2021.800095
Abstract: Cystic fibrosis (CF) is a rare disease in the Japanese. The most common CFTR variant in Japanese CF patients is a large heterozygous deletion that can easily avoid detection by standard gene sequencing methods. We… read more here.
Keywords: heterozygous deletion; cftr gene; cftr; large heterozygous ... See more keywords