Work

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

Year: 2002

Type: article

Study design: Observational Study

Source: Molecular Genetics and Metabolism

DOI: 10.1016/s1096-7192(02)00023-9

Authors: Carla P Guimarães, Manuela Lemos, Clara Sá-Miranda, Jorge E Azevedo

Institutions: Universidade do Porto, Instituto de Biologia Molecular e Celular, Instituto de Ciências Biomédicas Albel Salazar

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: closed

Funders: Ministério da Educação e Ciência, Instituto Nacional de Ciência e Tecnologia para Excitotoxicidade e Neuroproteção

Awards: G1296874550, G8366592234

OpenAlex ID: W2121792954

FWCI: 0.715

Cites: 32

Cited by: 20

Related to: 10