ABCMdb

PMID: 17594397

Schneider M, Hirt C, Casaulta C, Barben J, Spinas R, Buhlmann U, Spalinger J, Schwizer B, Chevalier-Porst F, Gallati S
Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.
Clin Genet. 2007 Jul;72(1):30-8., [PubMed]

Sentences

No. Mutations Sentence Comment

117 ABCC7 p.Arg553* Hepatobiliary disease (treatment with ursodeoxycholic acid) appeared only in patient 1 and 7 presenting with the nonsense mutation R553X on the non-deleted allele. Login to comment 118 ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe Finally, the presence of the non-synonymous base substitution L997F and the dele2-9 on the same CFTR chromosome of P2 points out that not the missense mutation L997F acts as the disease causing mutation but in fact the deletion spanning exons 2 to 9. Login to comment