Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency-Reference-Cited by-同舟云学术

Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency

Published:2015-08-19 Issue:12 Volume:167 Page:3139-3143
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Loewenthal Neta¹,Haim Alon¹,Parvari Ruti²,Hershkovitz Eli¹

Affiliation:

1. Pediatric Endocrinology Diabetes Unit; Soroka Medical University Center Faculty of Health Sciences; Ben-Gurion University of the Negev; Beer Sheva Israel

2. Shraga Segal Department of Microbiology; Immunology and Genetics; Faculty of Health Sciences; National Institute for Biotechnology in the Negev; Ben-Gurion University of the Negev; Beer Sheva Israel

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference11 articles.

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5. Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency;Lee;J Biol Chem,2014

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