ABCC7 p.Val1147Ile
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 12439892
[PubMed]
Kilinc MO et al: "Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients."
No.
Sentence
Comment
2
Seven novel mutations were identified: four missense (K68E, Q493P, E608G, and V1147I), two splice-site (406 À3T > C and 3849 þ 5G > A), and one deletion (CFTRdele17b,18).
X
ABCC7 p.Val1147Ile 12439892:2:78
status: NEW8 KEY WORDS: CF; Turkish; K68E; Q493P; E608G; V1147I; 406 À 3T > C; 3849 þ 5G > A; CFTRdele17b, 18 INTRODUCTION Cystic fibrosis (CF) is the most common autosomal recessive disorder in populations with European ancestry with about 1:25 carrier frequency with regional variation.
X
ABCC7 p.Val1147Ile 12439892:8:44
status: NEW83 V1147I A G !
X
ABCC7 p.Val1147Ile 12439892:83:0
status: NEW92 Sequencing results for six of the novel CF mutations: (a) 406 À 3T > C (sense); (b) V1147I (sense); (c) K68E (sense); (d) 3849 þ 5G > A (antisense); (e) Q493P (sense); (f) E608G (sense).
X
ABCC7 p.Val1147Ile 12439892:92:89
status: NEW