Work

Recurrent COL7A1 Mutations in Japanese Patients with Dystrophic Epidermolysis Bullosa: Positional Effects of Premature Termination Codon Mutations on Clinical Severity

Year: 1999

Type: article

Study design: Observational Study

Source: Journal of Investigative Dermatology

DOI: 10.1046/j.1523-1747.1999.00601.x

Authors: Katsuto Tamai, Takaya Murai, Mamiko Mayama, Atsushi Kon, Kazuo Nomura, Daisuke Sawamura, Katsumi Hanada, Isao Hashimoto, Hiroshi Shimizu, Takuji Masunaga, Takeji Nishikawa, Yoshihiko Mitsuhashi, Akemi Ishida-Yamamoto, Shigaku Ikeda, Hideoki Ogawa, John A. McGrath, Leena Pulkkinen, Jouni Uitto

Institutions: Hirosaki University, Keio University, Yamagata University, Yamagata University Hospital, Asahikawa Medical University, Asahikawa University, Juntendo University, Juntendo University Hospital, Thomas Jefferson University

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G1991966960, Program Project Grant

OpenAlex ID: W1512066273

FWCI: 0.591

Cites: 10

Cited by: 37

Related to: 10