ABCMdb

PMID: 15927881

Clark H, Clark LS
The genetics of neonatal respiratory disease.
Semin Fetal Neonatal Med. 2005 Jun;10(3):271-82. Epub 2005 Apr 7., [PubMed]

Sentences

No. Mutations Sentence Comment

155 ABCC7 p.Arg117His ABCC7 p.Trp1282* Conversely, in individuals of Ashkenazi Jewish origin, W1282X accounts for approximately 60% of the total.67 Genotype-phenotype correlations in cystic fibrosis have been well documented.67,69e71 The R117H mutation is generally associated with pancreatic sufficiency and a milder phenotype. Login to comment 159 ABCC7 p.Arg117His In addition, the 5T allele may modify the phenotype of the R117H mutation. Login to comment 160 ABCC7 p.Arg117His Although the majority of CFTR mutations occur in cis (i.e. on the same chromosome) with the 7T and 9T alleles, R117H may occur in cis with 5T or 7T. Login to comment 161 ABCC7 p.Arg117His ABCC7 p.Arg117His As expected, R117H-7T is generally milder than R117H-5T. Login to comment