Work

Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene

Year: 2011

Type: article

Study design: Case Report

Source: Congenital Anomalies

DOI: 10.1111/j.1741-4520.2011.00353.x

Authors: Mitsuo Masuno, Atsushi Watanabe, Banyar Than Naing, Takashi Shimada, Wataru Fujimoto, Shinsuke Ninomiya, Yasunori Ueda, Kazushige Kadota, Tatsuya Kotaka, Eisei Kondo, Yasuko Yamanouchi, Mika Inoue, Kazunobu Ouchi, Yoshikazu Kuroki

Institutions: Kawasaki Medical School, Kawasaki University of Medical Welfare, Nippon Medical School, Kurashiki Central Hospital, Okayama University Hospital

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Kawasaki Medical School, Japan Society for the Promotion of Science

Award: Perinatal gene therapy for severe genetic diseases

OpenAlex ID: W1869789416

FWCI: 0.314

Cites: 11

Cited by: 5

Related to: 10