Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion

Phosphoglucomutase 1 (PGM1) deficiency is a recently defined disease characterized by glycogenosis and a congenital glycosylation disorder caused by recessive mutations in the PGM1 gene. We report a case of a 12-year-old boy with first-cousin parents who was diagnosed with a PGM1 deficiency due to s...

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מידע ביבליוגרפי
הוצא לאור ב:JIMD Rep
Main Authors: Yokoi, Katsuyuki, Nakajima, Yoko, Ohye, Tamae, Inagaki, Hidehito, Wada, Yoshinao, Fukuda, Tokiko, Sugie, Hideo, Yuasa, Isao, Ito, Tetsuya, Kurahashi, Hiroki
פורמט: Artigo
שפה:Inglês
יצא לאור: Springer Berlin Heidelberg 2018
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Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323009/
https://ncbi.nlm.nih.gov/pubmed/29752652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_108
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