Mutations in PERP Cause Dominant and Recessive Keratoderma

Author:

Duchatelet Sabine,Boyden Lynn M.,Ishida-Yamamoto Akemi,Zhou Jing,Guibbal Laure,Hu Ronghua,Lim Young H.,Bole-Feysot Christine,Nitschké Patrick,Santos-Simarro Fernando,de Lucas Raul,Milstone Leonard M.,Gildenstern Vanessa,Helfrich Yolanda R.,Attardi Laura D.,Lifton Richard P.,Choate Keith A.,Hovnanian Alain

Funder

MEXT KAKENHI

Fondation ARC pour la recherche sur le cancer

Foundation for Ichthyosis and Related Skin Types

National Institutes of Health

Association Ichtyose France

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference51 articles.

1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr Protoc Hum Genet,2013

2. SNPmasker: automatic masking of SNPs and repeats across eukaryotic genomes;Andreson;Nucleic Acids Res,2006

3. PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family;Attardi;Genes Dev,2000

4. A global reference for human genetic variation;Auton;Nature,2015

5. Three clonal types of keratinocyte with different capacities for multiplication;Barrandon;Proc Natl Acad Sci USA,1987

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