PMID: 12220442

Narzi L, Lucarelli M, Lelli A, Grandoni F, Lo Cicero S, Ferraro A, Matarazzo P, Delaroche I, Quattrucci S, Strom R, Antonelli M
Comparison of two different protocols of neonatal screening for cystic fibrosis.
Clin Genet. 2002 Sep;62(3):245-9., [PubMed]
Sentences
No. Mutations Sentence Comment
39 ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 12220442:39:80
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 12220442:39:74
status: NEW
view ABCC7 p.Gly85Glu details
 Mutations known to produce variable or mild clinical manifestations (e.g. G85E, R347P, 2789π 5GtoA) were observed in newborns with pancreatic sufficiency (PS). Login to comment 40 ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 12220442:40:152
status: NEW
view ABCC7 p.Gly85Glu details
 Affected subjects with initial PS (32%) were further evaluated for a period of time (from 6months to 1year): PS persisted in all except one (with DF508/G85E genotype) who, after the first year, showed PI with a decrement to borderline value of stool chymotrypsin (6.4U/g) but to pathological value of stool elastase1 (77mg/ g, with pathological values Ͻ 200mg/g). Login to comment