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(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty

We sequenced MKRN3, the major causative gene of central precocious puberty in Western countries, in 24 Japanese or Chinese patients and examined the DNA methylation and copy-number statuses of this gene in 19 patients. We identified no (epi)genetic defects except for one previously reported mutation...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Suzuki, Erina, Shima, Hirohito, Kagami, Masayo, Soneda, Shun, Tanaka, Toshiaki, Yatsuga, Shuichi, Nishioka, Junko, Oto, Yuji, Kamiya, Toshiya, Naiki, Yasuhiro, Ogata, Tsutomu, Fujisawa, Yasuko, Nakamura, Akie, Kawashima, Sayaka, Morikawa, Shuntaro, Horikawa, Reiko, Sano, Shinichiro, Fukami, Maki
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6341071/
https://ncbi.nlm.nih.gov/pubmed/30675365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0039-9
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