ABCMdb

PMID: 22087432

Nogee LM
Genetic Basis of Children's Interstitial Lung Disease.
Pediatr Allergy Immunol Pulmonol. 2010 Mar;23(1):15-24., [PubMed]

Sentences

No. Mutations Sentence Comment

38 ABCA3 p.Glu292Val ABCA3 p.Glu292Val ABCA3 p.Glu292Val ABCA3 p.Glu292Val Ablation of the β chain in mice resulted in the phenotype of PAP in either preclude ABCA3 production or intracellular transport (type I), or impair the ability of protein to bind and/or hydrolyze ATP or transport phospholipids across membranes (type II).69-72 One specific mutation, the substitution of valine for glutamic acid in codon 292 (p.E292V or c.875A>T) has been identified in multiple unrelated children with generally milder disease and the phenotype of chILD. Login to comment