Work

Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability

Year: 2007

Type: article

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.32053

Authors: Eiji Nakashima, Joseph R. Tran, Tim J.M. Welting, Ger J.M. Pruijn, Yuichiro Hirose, Gen Nishimura, Hirofumi Ohashi, Shepherd H. Schurman, Jun Cheng, Fabio Candotti, Ramaiah Nagaraja, Shiro Ikegawa, David Schlessinger

Institutions: National Institutes of Health, RIKEN, National Institute on Aging, Radboud University Nijmegen, Tokyo Metropolitan Kiyose Children's Hospital, Saitama Children's Medical Center, National Human Genome Research Institute

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Institutes of Health

OpenAlex ID: W1973476079

FWCI: 1.964

Cites: 25

Cited by: 38

Related to: 10