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

Glucose-6-phosphatase-β (G6Pase-β or G6PC3) deficiency is characterized by neutropenia and dysfunction in both neutrophils and macrophages. G6Pase-β is an enzyme embedded in the endoplasmic reticulum membrane that catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and phosphate. To dat...

詳細記述

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書誌詳細
出版年:Mol Genet Metab
主要な著者: Lin, Su Ru, Pan, Chi-Jiunn, Mansfield, Brian C., Chou, Janice Yang
フォーマット: Artigo
言語:Inglês
出版事項: 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4794745/
https://ncbi.nlm.nih.gov/pubmed/25492228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.11.012
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