ABCMdb

PMID: 18810634

Sharma N, Singh M, Acharya N, Singh SK, Thapa BR, Kaur G, Prasad R
Implication of the cystic fibrosis transmembrane conductance regulator gene in infertile family members of Indian CF patients.
Biochem Genet. 2008 Dec;46(11-12):847-56. Epub 2008 Sep 23., [PubMed]

Sentences

No. Mutations Sentence Comment

39 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Asn1303Lys R117H, N1303K, and R553X mutations were analyzed by single ARMS PCR, and 621 ? Login to comment 40 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Gly542* 1G-T, G542X, G551D, and W1282X by multiplex ARMS PCR (Ferrie et al. 1992). Login to comment 41 ABCC7 p.Ala455Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro CFTR mutations were investigated by restriction analysis of PCR products R334W (MspI), R347P (NcoI), A455E (AciI), 2789 ? Login to comment 42 ABCC7 p.Arg1162* 5G-A (SspI), R1162X (DdeI), and c.3717 ? Login to comment