ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

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作者： María Eugenia,de la Morena-Barrio ^[1] ; María,Sabater ^[2] ; Belén,de la Morena-Barrio ^[1] ; Renee L,Ruhaak ^[3] ; Antonia,Miñano ^[1] ; José,Padilla ^[1] ; Mara,Toderici ^[1] ; Vanessa,Roldán ^[1] ; Juan R,Gimeno ^[2] ; Vicente,Vicente ^[1] ; Javier,Corral ^[1]

作者单位： Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, CIBERER, Universidad de Murcia, IMIB-Arrixaca, Murcia, Spain. ^[1] Servicio de Cardiología, Laboratorio de Cardiogenética, CIBERCV, Hospital Clínico Universitario Virgen de la Arrixaca-IMIB, Murcia, Spain. ^[2] Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Center, Leiden, The Netherlands. ^[3]

关键词 ALG12-CDG congenital disorder of N-glycosylation scoliosis ventricular septal defect

主题词成年人(Adult);先天性糖基化病(Congenital Disorders of Glycosylation);DNA结合蛋白质类(DNA-Binding Proteins);女(雌)性(Female);葡糖转移酶类(Glucosyltransferases);室间隔缺损(Heart Septal Defects, Ventricular);人类(Humans);甘露糖基转移酶类(Mannosyltransferases);膜蛋白质类(Membrane Proteins);突变(Mutation);肿瘤蛋白质类(Neoplasm Proteins);表型(Phenotype);脊柱侧凸(Scoliosis)

DOI 10.1002/mgg3.1304

PMID 32530140

发布时间 2021-05-11

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Molecular genetics & genomic medicine

2020年8卷8期

e1304页

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ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

Molecular genetics & genomic medicine

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ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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