Work

C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

Year: 1998

Type: article

Study design: Observational Study

Source: Annals of Human Genetics

DOI: 10.1046/j.1469-1809.1998.6230225.x

Authors: J. FRANK, X. WANG, H‐M. LAM, V. M. AITA, F. K. JUGERT, G. GOERZ, H. F. MERK, M. B. POH‐FITZPATRICK, A. M. CHRISTIANO

Institutions: Columbia University, Universitätsklinikum Aachen, RWTH Aachen University, Heinrich Heine University Düsseldorf

Language: English

Topic: Porphyrin Metabolism and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G2167776174, LSIT

OpenAlex ID: W2029507842

FWCI: 0.116

Cites:

Cited by: 24

Related to: 10