Work

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Year: 2012

Type: article

Study design: Observational Study

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2012.61

Authors: Cheryl Shoubridge, Alison Gardner, Charles E Schwartz, Anna Hackett, Michael Field, Jozef Gecz

Institutions: South Australia Pathology, Women's and Children's Hospital, Women's and Children's Health Network, The University of Adelaide, Greenwood Genetic Center, Hunter Genetics

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

Funders: National Institutes of Health, National Health and Medical Research Council, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G1151667499, G194938417, Epilepsy: a basic science to patient program about how gene changes cause seizures, X-Linked Mental Retardation-Linkage

OpenAlex ID: W1996507669

FWCI: 0.575

Cites: 51

Cited by: 10

Related to: 10