ABCMdb

PMID: 21514256

Giovannoni I, Santorelli FM, Candusso M, Di Rocco M, Bellacchio E, Callea F, Francalanci P
Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.
Dig Liver Dis. 2011 Jul;43(7):567-70. Epub 2011 Apr 21., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCB4 p.Arg595* ABCB4 p.Arg595* Results: Genotyping revealed two novel mutations in ABCB4: the c.1783 C > T (p.R595X) mutation in exon 15 was detected in compound heterozygosity with the c.937 992 in/del in exon 9 in one case, whereas the homozygous p.R595X mutation was recognized in the second child. Login to comment 51 ABCB4 p.Arg595* We detected the c.1783 C > T (p.R595X) mutation in exon 15 in compound heterozygosity with the c.937 942delGCACTG/ins55 (p.A313MfsX72) in exon 9 (Fig. 2). Login to comment 63 ABCB4 p.Arg595* (B) Electropherogram of the heterozygous p.R595X mutation in ABCB4. Login to comment 68 ABCB4 p.Arg595* Shown is the model of the structure of ABCB4 protein (wild type) and of proteins truncated at amino acid positions 595 and 313, corresponding respectively to the variants p.R595X and c.937 992 in/del (for this latter variant, the model does not include the random 72 residues after amino acid 312). Login to comment 71 ABCB4 p.Arg595* Combination of d-HPLC and direct ABCB4 gene sequencing detected the homozygous p.R595X mutation. Login to comment