PMID: 9068292

Wallis C
Diagnosing cystic fibrosis: blood, sweat, and tears.
Arch Dis Child. 1997 Feb;76(2):85-8., [PubMed]
Sentences
No. Mutations Sentence Comment
29 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9068292:29:106
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 9068292:29:127
status: NEW
view ABCC7 p.Pro574His details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 9068292:29:113
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 9068292:29:120
status: NEW
view ABCC7 p.Arg347Pro details
 Pancreatic insuYciency appears to correlate with diVerent gene mutations at the CFTR locus21 (for example R117H, R334W, R347P, P574H), but to date there has not been a satisfactory correlation between a high chloride conduction (that is a high sweat test result )22 or severe pulmonary disease and genotyping.23 The most surprising finding to emanate from the numerous phenotype-genotype correlation studies that festoon the cystic fibrosis literature, is a new understanding of the wide phenotypic range that an individual, homozygous for a mutation in the CFTR gene, can present. Login to comment