Work

Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

Year: 2005

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/431216

Authors: Wen-Qi Zeng, Eiman Al-Yamani, James S. Acierno, Susan Slaugenhaupt, Tammy Gillis, Marcy E. MacDonald, Pinar T. Ozand, James F. Gusella

Institutions: Massachusetts General Hospital, King Faisal Specialist Hospital & Research Centre

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Institute of Neurological Disorders and Stroke

Awards: G3241945294, G5196065171

OpenAlex ID: W1998152325

FWCI: 3.859

Cites: 55

Cited by: 212

Related to: 10