Branchio-oto-renal syndrome (BOR): novel mutations in theEYA1gene, and a review of the mutational genetics of BOR-Reference-Cited by-同舟云学术

Branchio-oto-renal syndrome (BOR): novel mutations in theEYA1gene, and a review of the mutational genetics of BOR

Published:2008-01-25 Issue:4 Volume:29 Page:537-544
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Orten Dana J.,Fischer Stephanie M.,Sorensen Jessica L.,Radhakrishna Uppala,Cremers Cor W.R.J.,Marres Henri A.M.,Van Camp Guy,Welch Katherine O.,Smith Richard J.H.,Kimberling William J.

Funder

National Institutes of Health (NIH)-National Institute of Dental and Craniofacial Research (NIDCR)

NIH-National Institute on Deafness and Other Communication Disorders (NIDCD)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference58 articles.

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2. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family;Abdelhak;Nat Genet,1997b

3. Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation;Albrecht;Am J Med Genet A,2004

4. ConSeq: the identification of functionally and structurally important residues in protein sequences;Berezin;Bioinformatics,2004

5. The eyes absent gene: genetic control of cell survival and differentiation in the developing Drosophila eye;Bonini;Cell,1993

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