Work

A nonsense mutation in FMR1 causing fragile X syndrome

Year: 2011

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2010.223

Authors: Karen Grønskov, Karen Brøndum-Nielsen, Alma Dedic, Helle Hjalgrim

Institutions: Kennedy Center, The Danish Epilepsy Association

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W1990458145

FWCI: 8.166

Cites: 16

Cited by: 87

Related to: 10