Work

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

Year: 2021

Type: article

Source: Neurogenetics

DOI: 10.1007/s10048-020-00630-5

Authors: Deborah L. Stabley, Jennifer Holbrook, Mena Scavina, Thomas O. Crawford, Kathryn J. Swoboda, Katherine M. Robbins, Matthew E. R. Butchbach

Institutions: Alfred I. duPont Hospital for Children, Johns Hopkins University, Massachusetts General Hospital, Thomas Jefferson University, University of Delaware

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: Nemours Foundation, National Institutes of Health, National Institute of General Medical Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Intellectual and Developmental Disabilities Research Centers 2020, Intellectual and Developmental Disabilities Research Centers 2013, Center for Pediatric Research, Delaware INBRE

OpenAlex ID: W3121106307

FWCI: 2.383

Cites: 61

Cited by: 23

Related to: 10