PMID: 17632692

Roussey M, Le Bihannic A, Scotet V, Audrezet MP, Blayau M, Dagorne M, David V, Deneuville E, Ginies JL, Laurans M, Moisan-Petit V, Rault G, Vigneron P, Ferec C
Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations.
J Inherit Metab Dis. 2007 Aug;30(4):613. Epub 2007 Jul 12., [PubMed]
Sentences
No. Mutations Sentence Comment
7 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 17632692:7:35
status: NEW
view ABCC7 p.Arg117His details
 The most frequent mild mutation is R117H ISV8j7T (50%). Login to comment