Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X-Reference-Cited by-同舟云学术

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X

Published:2021-09 Issue:9 Volume:64 Page:104283
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Nayab Anam,Alam Qamre,Alzahrani Othman R.^ORCID,Khan Ranjha^ORCID,Sarfaraz Sara,Albaz Alrayan Abass^ORCID,Rafeeq Misbahuddin M.,Sain Ziaullah M.,Waqas Ahmed,Umair Muhammad^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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3. Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment;Hicks;Ultrastruct. Pathol.,2011

4. Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation;Jones;Genet. Med.,2011

5. Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset;Joshi;Acta Neuropathol.,2009

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