Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens
β Scribed by Hideo Sakamoto; Takatoshi Yajima; Kohta Suzuki; Yoshio Ogawa
- Book ID
- 108977654
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 116 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0919-8172
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The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f
Cystic fibrosis (CF) is characterised as a single-gene disorder with a simple, autosomal recessive mode of inheritance. However, translation of CFTR genotype into CF phenotype is influenced by nucleotide sequence variations at multiple genetic loci, and individuals heterozygous for CFTR mutations ar