ABCMdb

PMID: 11055897

Hogenauer C, Santa Ana CA, Porter JL, Millard M, Gelfand A, Rosenblatt RL, Prestidge CB, Fordtran JS
Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion.
Am J Hum Genet. 2000 Dec;67(6):1422-7. Epub 2000 Oct 30., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Ser549Arg ABCC7 p.Met1101Lys ABCC7 p.Met1101Lys The remaining patient (patient 6) had only one detected CFTR mutation; however, because this patient definitely Table 1 Demographics and CFTR Mutation Analysis Group and Subject (Sex [Age])a Ethnicityb CFTR Mutation Analysisc CFTR Intron 8 Poly(T) Analysis Parents: 1 (M [28]) White Negative/DF508 7T/9T 2 (F [32]) White Negative/DF508 7T/9T 3 (F [44]) White Negative/DF508 7T/9T 4 (M [36]) AA Negative/DF508 9T/9T 5 (M [54]) White Negative/N1303K 7T/9T 6 (F [24]) White Negative/S549R 7T/7T 7 (F [30]) AA Negative/3120af9;1G-A 7T/7T Patients: 1 (F [20]) White DF508/N1303K 9T/9T 2 (F [22]) White DF508/DF508 9T/9T 3 (F [33]) White DF508/1898af9;1G-A 7T/9T 4 (F [27]) White DF508/DI507 7T/9T 5 (M [28]) White DF508/DF508 9T/9T 6 (F [31]) White Negative/DF508 7T/9T 7 (M [18]) White DF508/M1101K 7T/9T 8 (M [18]) White DF508/M1101K 7T/9T a Members of the patient group had CF; members of the parent group had offspring with CF who were not necessarily included in the present study. Login to comment