Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene

• Main Authors: Mayumi Kawase (Author), Masato Ogawa (Author), Takayuki Hoshina (Author), Masumi Kojiro (Author), Miyuki Nakakuki (Author), Satoru Naruse (Author), Hiroshi Ishiguro (Author), Koichi Kusuhara (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 herein report a novel large heterozygous deletion in the CFTR gene in Japanese sibling...