Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations inABCC6-Reference-Cited by-同舟云学术

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations inABCC6

Published:2005-09 Issue:3 Volume:26 Page:235-248
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Miksch Sara,Lumsden Amanda,Guenther Ulf P.,Foernzler Dorothee,Christen-Zäch Stéphanie,Daugherty Carol,Ramesar Raj Kumar S.,Lebwohl Mark,Hohl Daniel,Neldner Kenneth H.,Lindpaintner Klaus,Richards Robert I.,Struk Berthold

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference46 articles.

1. MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver;Belinsky;Br J Cancer,1999

2. Mutations in ABCC6 cause pseudoxanthoma elasticum;Bergen;Nat Genet,2000

3. A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure;Cai;J Mol Med,2000

4. A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum;Cai;J Mol Med,2001

5. Novel ABCC6 mutations in pseudoxanthoma elasticum;Chassaing;J Invest Dermatol,2004

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