Familial episodic limb pain in kindreds with novel Nav1.9 mutations

We previously performed genetic analysis in six unrelated families with infantile limb pain episodes, characterized by cold-induced deterioration and mitigation in adolescence, and reported two new mutations p.R222H/S in SCN11A responsible for these episodes. As no term described this syndrome (fami...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Wydane w:PLoS One
Główni autorzy: Kabata, Risako, Okuda, Hiroko, Noguchi, Atsuko, Kondo, Daiki, Fujiwara, Michimasa, Hata, Kenichiro, Kato, Yoshifumi, Ishikawa, Ken, Tanaka, Manabu, Sekine, Yuji, Hishikawa, Nozomi, Mizukami, Tomoyuki, Ito, Junichi, Akasaka, Manami, Sakurai, Ken, Yoshida, Takeshi, Minoura, Hironori, Hayashi, Takashi, Inoshita, Kohei, Matsuyama, Misayo, Kinjo, Noriko, Cao, Yang, Inoue, Sumiko, Kobayashi, Hatasu, Harada, Kouji H., Youssefian, Shohab, Takahashi, Tsutomu, Koizumi, Akio
Format: Artigo
Język:Inglês
Wydane: Public Library of Science 2018
Hasła przedmiotowe:
Research Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6296736/
https://ncbi.nlm.nih.gov/pubmed/30557356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0208516
Etykiety: Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!

Podobne zapisy