ABCMdb

PMID: 19252731

Anandarajan M, Paulraj S, Tubman R
ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn.
Ulster Med J. 2009 Jan;78(1):51-2., [PubMed]

Sentences

No. Mutations Sentence Comment

27 ABCA3 p.Gly378Arg DNA sequencing demonstrated a mutation in coding exon 8 on one allele of the baby`s ABCA3 gene resulting in substitution of arginine for glycine (G378R, where G refers to Glycine and R refers to Arginine). Login to comment 28 ABCA3 p.Gly378Arg ABCA3 p.Gly1002Arg ABCA3 p.Gly1002Arg There was a second mutation in the last base coding exon 18 that led to substitution of arginine for glycine in codon 1002 (G1002R). Login to comment 29 ABCA3 p.Gly1002Arg ABCA3 p.Gly1002Arg There was a second mutation in the last base coding exon 18 that led to substitution of arginine for glycine in codon 1002 (G1002R). Login to comment