Work

Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency

Year: 2014

Type: article

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2014.11.012

Authors: Su Ru Lin, Chi-Jiunn Pan, Brian C. Mansfield, Janice Yang Chou

Institutions: National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Foundation Fighting Blindness

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

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

Award: Molecular Genetics Of Heritable Human Disorders

OpenAlex ID: W1997440536

FWCI: 0.723

Cites: 32

Cited by: 11

Related to: 10