Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis
Abstract Cystic fibrosis (CF) is an autosomal recessive inherited disease caused by variants of cystic fibrosis transmembrane conductance regulation (CFTR) gene. This report presents a case of a Chinese boy diagnosed with CF, attributed to the presence of two specific CFTR gene variations: 4056G >...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2024-08-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |