Work

SET binding factor 1 ( SBF1 ) mutation causes Charcot-Marie-Tooth disease type 4B3

Year: 2014

Type: article

Abstract: In reference to "SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3," Dr. Alkuraya et al. describe their own investigation into a Saudi family with autosomal recessive Charcot-Marie-Tooth disease and a missense mutation in SBF1.

Source: Neurology

DOI: 10.1212/wnl.0000000000000331

Authors: Anas M. Alazami, Fatema Alzahrani, Saeed Bohlega, Fowzan S. Alkuraya

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W3140207098

FWCI: 0.942

Cites: 5

Cited by: 27

Related to: 10