Work

Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia

Year: 2001

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1086/318810

Authors: Susan A. Slaugenhaupt, Anat Blumenfeld, Sandra P. Gill, Maire Leyne, James Mull, Math P. Cuajungco, Christopher B. Liebert, Brian Chadwick, Maria Idelson, Luba Reznik, Christiane M. Robbins, Izabela Makalowska, Michael J. Brownstein, Daniel Krappmann, Claus Scheidereit, Channa Maayan, Felicia B. Axelrod, James F. Gusella

Institutions: Harvard University, Massachusetts General Hospital, Hadassah Medical Center, National Human Genome Research Institute, National Institute of Mental Health, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Max Delbrück Center, NYU Langone Health, New York University

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

Funders: National Institutes of Health, National Institute of Neurological Disorders and Stroke

Awards: G168826461, Mechanism of Familial Dysautonomia

OpenAlex ID: W2092908962

FWCI: 9.859

Cites: 24

Cited by: 592

Related to: 10