Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients

Werner syndrome (WS) is a rare autosomal recessive disorder characterized by systemic accelerated aging. It is caused by pathogenic variants of the WRN gene that encodes a nuclear helicase. In this report, we describe 4 newly identified WS cases among those referred to the Japanese Werner Consortium...

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Vydáno v:Mol Syndromol
Hlavní autoři: Maezawa, Yoshiro, Kato, Hisaya, Takemoto, Minoru, Watanabe, Aki, Koshizaka, Masaya, Ishikawa, Takahiro, Sargolzaeiaval, Forough, Kuzuya, Masafumi, Wakabayashi, Hiroshi, Kusaka, Takashi, Yokote, Koutaro, Oshima, Junko
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2018
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6103371/
https://ncbi.nlm.nih.gov/pubmed/30140198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000489055
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