Phenotypic and genotypic spectra of patients with glucose-6-phosphate dehydrogenase deficiency gene known pathogenic variants : a single-center study

Objective: To analyze the hotspots of known pathogenic disease-causing variants of glucose-6-phosphate dehydrogenase (G6PD) and the phenotype spectrum of neonatal patients with known pathogenic disease-causing variants of G6PD. Methods: The known pathogenic disease-causing variants of G6PD were coll...

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Publié dans:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 5 vom: 02. Mai, Seite 364-368
Auteur principal:	Chen, X (Auteur)
Autres auteurs:	Yang, L, Wang, H J, Wu, B B, Lu, Y L, Dong, X R, Zhou, W H
Format:	Article en ligne
Langue:	Chinese
Publié:	2018
Accès à la collection:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:	Journal Article Glucosephosphate dehydrogenase deficiency Infant, newborn Mutation Glucosephosphate Dehydrogenase EC 1.1.1.49