PMID: 7691349

Dork T, Fislage R, Rappen U, Tummler B
Severe splice site mutation preceding exon 9 of the CFTR gene.
Hum Mol Genet. 1993 Aug;2(8):1313-4., [PubMed]
Sentences
No. Mutations Sentence Comment
19 ABCC7 p.Tyr1092*
X
ABCC7 p.Tyr1092* 7691349:19:116
status: NEW
view ABCC7 p.Tyr1092* details
 The 13-year old girl inherited 1342-2 A-C from her mother, whereas her father had transmitted the nonsense mutation Y1092X (first communicated by D.Bozon et al. (1)). Login to comment