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

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...

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Detalles Bibliográficos
Autores principales: Kawase, Mayumi, Ogawa, Masato, Hoshina, Takayuki, Kojiro, Masumi, Nakakuki, Miyuki, Naruse, Satoru, Ishiguro, Hiroshi, Kusuhara, Koichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8762059/
https://www.ncbi.nlm.nih.gov/pubmed/35047466
http://dx.doi.org/10.3389/fped.2021.800095

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8762059/
https://www.ncbi.nlm.nih.gov/pubmed/35047466
http://dx.doi.org/10.3389/fped.2021.800095

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