OpenAlex | A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

Work

Year: 2013

Type: article

Abstract: Nearly 50 congenital disorders of glycosylation (CDG) are known, but many patients biochemically diagnosed with CDG do not have mutations in known genes. Here, we describe a 16-year-old male who was b... more

Source: Human Molecular Genetics

Authors Marie‐Estelle Losfeld, Bobby G. Ng, Martin Kircher, Kati J. Buckingham, Emily H. Turner +6 more

Institutions Sanford Burnham Prebys Medical Discovery Institute, University of Washington

Cites: 16

Cited by: 60

Related to: 10

FWCI: 1.42

Citation percentile (by year/subfield): 90.86

Topic: Glycosylation and Glycoproteins Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Sustainable Development Goal Good health and well-being

Open Access status: bronze