The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron-Reference-Cited by-同舟云学术

The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron

Published:2009-03-16 Issue:4 Volume:149A Page:657-661
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

van Steensel M.A.M.,Oranje A.P.,van der Schroeff J.G.,Wagner A.,van Geel M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

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3. Base-calling of automated sequencer traces using phred. I. Accuracy assessment;Ewing;Genome Res,1998

4. Consed: A graphical tool for sequence finishing;Gordon;Genome Res,1998

5. The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope;Ishida-Yamamoto;Am J Hum Genet,1997

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