ABCMdb

PMID: 20627915

Derichs N, Sanz J, Von Kanel T, Stolpe C, Zapf A, Tummler B, Gallati S, Ballmann M
Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data.
Thorax. 2010 Jul;65(7):594-9., [PubMed]

Sentences

No. Mutations Sentence Comment

74 ABCC7 p.Gly551Asp ABCC7 p.Ile177Phe Three patients with a T5 allele had one CFTR mutation (G551D/-; F508del/-; I177F/-), but TGm status (TG11) if available was suggestive to be benign, providing further evidence for the classification 'CF unlikely`. Login to comment