Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders
โ Scribed by Moskowitz, Samuel M; Chmiel, James F; Sternen, Darci L; Cheng, Edith; Gibson, Ronald L; Marshall, Susan G; Cutting, Garry R
- Book ID
- 121461327
- Publisher
- Nature Publishing Group
- Year
- 2008
- Tongue
- English
- Weight
- 516 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1098-3600
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## Abstract An unavoidable outcome of cystic fibrosis newborn screening (CF NBS) programs is the detection of infants with an indeterminate diagnosis. The United States CF Foundation recently proposed the term cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) to
Cystic fibrosis (CF) is an autosomal recessive disease characterized by obstruction and chronic infections of the respiratory tract and pancreatic insufficiency. The gene was cloned in 1989 and the most frequent mutation was shown to be the delta F508 mutation. During PGD, embryos obtained in vitro