Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations-Reference-Cited by-同舟云学术

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

Published:2011-01-28 Issue:2 Volume:32 Page:183-190
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Krug Pauline,Morinière Vincent,Marlin Sandrine,Koubi Valérie,Gabriel Heinz D.,Colin Estelle,Bonneau Dominique,Salomon Rémi,Antignac Corinne,Heidet Laurence

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21402/fullpdf

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3. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies;Azuma;Hum Mol Genet,2000

4. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences;Chang;Hum Mutat,2004

5. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments;Charbonnier;Cancer Res,2000

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