Work

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

Year: 2011

Type: article

Study design: Observational Study

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2011.85

Authors: Jessica X Chong, A Afşin Oktay, Zunyan Dai, Kathryn J Swoboda, Thomas W Prior, Carole Ober

Institutions: University of Chicago, The Ohio State University, University of Utah

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Heart, Lung, and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Molecular Genetic Studies of Fertility in the Hutterites, Therapeutic Opportunities in Spinal Muscular Atrophy, Genomic Studies of Sex-Specific Architecture of Asthma-Associated Traits, Newborn screening for identification & prospective followup of infants with SMA

OpenAlex ID: W2071955743

FWCI: 1.456

Cites: 41

Cited by: 22

Related to: 10