ABCMdb

PMID: 17241866

Liu C, Aronow BJ, Jegga AG, Wang N, Miethke A, Mourya R, Bezerra JA
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.
Gastroenterology. 2007 Jan;132(1):119-26. Epub 2006 Oct 21., [PubMed]

Sentences

No. Mutations Sentence Comment

70 ABCB11 p.Arg1153Cys ABCB11 p.Arg1153Cys ABCB4 p.Arg652Gly ABCB4 p.Arg652Gly ABCB4 p.Gly302Ala ABCB4 p.Gly302Ala ABCB4 p.Gly1024Ala ABCB4 p.Gly1024Ala ABCB4 p.Gly1024Ala ABCB4 p.Gly1024Ala ABCB4 p.Gly1024Ala ABCB4 p.Gly1024Ala Diagnosisa Mutation 1 ␣1AT deficiency SERPINA1 T638C (Val213Ala, homozygous) and G1024A (Glu342Lys, homozygous)45,46 2 ␣1AT deficiency SERPINA1 T638C (Val213Ala, homozygous) and G1024A (Glu342Lys, homozygous)45,46 3 ␣1AT deficiency SERPINA1 T638C (Val213Ala, homozygous) and G1024A (Glu342Lys, homozygous)45,46 4 Alagille syndrome JAG1 C2230T (Arg744stop, heterozygous)47 5 Alagille syndrome JAG1 IVS19 ϩ1 G to A, heterozygous48 6 Alagille syndrome JAG1 C2650T (Glu884Stop, heterozygous)b 7 Alagille syndrome JAG1 C2650T (Glu884Stop, heterozygous)b 8 PFIC1 ATP8B1 C2788T (Arg930stop, heterozygous)28 9 PFIC1 ATP8B1 T1982C (Ile661Thr, heterozygous)15 10 PFIC1 ATP8B1 569-base pair deletion (including first 17 base pairs in exon 23, homozygous)b 11 PFIC2 ABCB11 C3457T (Arg1153Cys, heterozygous)17 12 PFIC2 ABCB11 C2782T (Arg928Stop, heterozygous)b 13 PFIC3 ABCB4 A874T (Lys292Stop, homozygous) and A1954G (Arg652Gly, homozygous)49 14 Biliary atresia ATP8B1 IVS 26 ϩ8 G to T, heterozygousb 15 Biliary atresia No nonsynonymous polymorphism 16 Biliary atresia No nonsynonymous polymorphism 17 Biliary atresia JAG1 C2612G (Pro871Arg, heterozygous)50 18 Biliary atresia SERPINA1 G302A (Arg101His, heterozygous)51 NOTE. Login to comment