ABCMdb

PMID: 22036338

Schwarz MJ
Prenatal and newborn screening for CFTR mutations: the difficulties of prediction.
Clin Biochem. 2011 May;44(7):485-6., [PubMed]

Sentences

No. Mutations Sentence Comment

18 ABCC7 p.Gly576Ala ABCC7 p.Gly576Ala An example of the former is the variant G576A (p.Gly576Ala) which, when in trans with a typically severe CF-causingmutation suchas F508del, can give rise to Congenital Bilateral Absence of the Vasa Deferentia (CBAVD) or disseminated bronchiectasis-two distinct symptoms of cystic fibrosis. Login to comment 36 ABCC7 p.Asp1152His ABCC7 p.Asp1152His For example, the mutations D1152H (p.Asp1152His) and 3272-26ANG (c.3140-26ANG) may be associated with late-onset bronchiectasis and an absence of any significant symptoms in infancy and childhood. Login to comment