ABCMdb

PMID: 11228252

Eftedal I, Schwartz M, Bendtsen H, Andersen AN, Ziebe S
Single intragenic microsatellite preimplantation genetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples.
Mol Hum Reprod. 2001 Mar;7(3):307-12., [PubMed]

Sentences

No. Mutations Sentence Comment

34 ABCC7 p.Trp1282* In couple I, the mother was a carrier of the ∆F508 deletion, whereas the father carried the mutation W1282X. Login to comment 38 ABCC7 p.Arg334Trp The father was heterozygous for the mutation R334W. Login to comment 78 ABCC7 p.Trp1282* In couple I, the healthy CFTR alleles thus segregated with IVS17bTA repeat unit numbers of 29 (maternal) and 38 (paternal), whereas the maternal ∆F508 segregated with 31 and the paternal W1282X with seven repeat units respectively. Login to comment 79 ABCC7 p.Arg334Trp For couple II, the IVS17bTA number of repeat units for the healthy alleles were 55 (maternal), and 33 (paternal) with seven for the maternal deletion and 48 for the paternal R334W. Login to comment