ABCMdb

PMID: 19148933

Abou Taam R, Jaubert F, Emond S, Le Bourgeois M, Epaud R, Karila C, Feldmann D, Scheinmann P, de Blic J
Familial interstitial disease with I73T mutation: A mid- and long-term study.
Pediatr Pulmonol. 2009 Feb;44(2):167-75., [PubMed]

Sentences

No. Mutations Sentence Comment

39 ABCA3 p.Glu292Val The SFTPC gene screening and ABCA3 E292V research were performed routinely. Login to comment 51 ABCA3 p.Glu292Val The ABCA3 E292V mutation was negative for all tested cases: II:4, III:4, III:8, III:9, III:10, and IV:1. Login to comment 118 ABCA3 p.Leu212Met Recently Bullard and Nogee2 reported an additional heterozygous ABCA3 mutation in three of four infants with SFTPC I73T mutation, all of whom developed a respiratory disease by 2 months of age (E292Vin two patients and L212M in one patient). Login to comment 119 ABCA3 p.Glu292Val The E292V mutation has not been found in our patients. Login to comment