Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

Loss-of-function mutations in filamin A (FLNA) cause an X-linked dominant disorder with multiple organ involvement. Affected females present with periventricular nodular heterotopia (PVNH), cardiovascular complications, thrombocytopenia and Ehlers–Danlos syndrome. These mutations are typically letha...

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Pubblicato in:Eur J Hum Genet
Autori principali: Oda, Hirotsugu, Sato, Tatsuhiro, Kunishima, Shinji, Nakagawa, Kenji, Izawa, Kazushi, Hiejima, Eitaro, Kawai, Tomoki, Yasumi, Takahiro, Doi, Hiraku, Katamura, Kenji, Numabe, Hironao, Okamoto, Shinya, Nakase, Hiroshi, Hijikata, Atsushi, Ohara, Osamu, Suzuki, Hidenori, Morisaki, Hiroko, Morisaki, Takayuki, Nunoi, Hiroyuki, Hattori, Seisuke, Nishikomori, Ryuta, Heike, Toshio
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755370/
https://ncbi.nlm.nih.gov/pubmed/26059841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.119
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