ABCMdb

ABCC7 p.Pro1013His

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Publications

PMID: 26014425 [PubMed] Girardet A et al: "The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus."

No. Sentence Comment

126 Prenatal diagnosis, Preimplantation genetic diagnosis, offered to Parents of a CF patient Carrier couples identified through carrier testing Carrier couples identified through investigations for fetal bowel anomalies Couples with one individual affected with CF and a carrier partner Couples with one individual affected with CBAVD and a carrier partner Table 4 Inclusion and exclusion criteria for CF-PGD according to countries France Italy Spain Belgium Greece UK USA Parents 1 affected+1 carrier S/LS A A A A A A A 1 affected+1 carrier M R A A A A A A 1 affected+1 carrier U A A A A R Aਭ A 2 carriers S/LS A A A A A A A 1 carrier S/LS+1 carrier M R A A A A A A 1 carrier S/LS+1 carrier U A A A A R Aਭ A Abbreviations: S, severe CF-causing variant (p.Phe508del, p.Gly542ਭߪ); LS, large spectrum variant (p.Leu206Trp, c.2657+5G4A ߪ); M, mild variant with variable disease penetrance (IVS8-5 T allele, p.Arg117His-7 T ߪ); U, variants of unproven or uncertain CF clinical relevance (p.Pro1013His, p.Arg1162Leu ߪ); A, accepted; R, refused. Login to comment