ABCMdb

PMID: 26547207

Chen YJ, Wambach JA, DePass K, Wegner DJ, Chen SK, Zhang QY, Heins H, Cole FS, Hamvas A
Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.
World J Pediatr. 2015 Nov 7., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCA3 p.Glu292Val ABCA3 p.Leu654Val ABCA3 p.Gly668Asp ABCA3 p.Gly205Arg ABCA3 p.Gly1608Cys ABCA3 p.Ala823Pro of alleles Frequency Frequency Frequency p.G205R 0.00 0.999 2 0.002 p.E292V 0.00 0.999 1 0.001 0.005 0.001 p.L654V 0.01 0.999 1 0.002 0.0003 p.G668D 0.00 0.992 2 0.003 p.A823P 0.01 0.992 1 0.002 p.F144IS 0.00 0.996 1 0.002 p.G1608C 0.01 1.000 2 0.003 Collapsed MAF 3 0.003* 7 0.011* Collapsed carrier frequency Han and Zhuang combined, % 1.3ߤ Table 2. Login to comment