PMID: 15562283

Viel M, Leroy C, Des Georges M, Claustres M, Bienvenu T
Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.
Eur J Hum Genet. 2005 Feb;13(2):136-8., [PubMed]
Sentences
No. Mutations Sentence Comment
57 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15562283:57:17
status: NEW
view ABCC7 p.Arg117His details
 19 Shrimpton AE: R117H and IVS8-5T cystic fibrosis mutation detection by restriction enzyme digestion. Login to comment