A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have ED...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Genome Var
Egile Nagusiak: Watanabe, Miki, Nakagawa, Ryuji, Naruto, Takuya, Kohmoto, Tomohiro, Suga, Ken-ichi, Goji, Aya, Kagami, Shoji, Masuda, Kiyoshi, Imoto, Issei
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2016
Gaiak:
Data Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5023785/
https://ncbi.nlm.nih.gov/pubmed/27656288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.30
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