Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. - Wikidata - wikimedia - TriplyDB

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.

http://www.wikidata.org/entity/Q37716764

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Genetic defects in dolichol metabolism.Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.Glycosylation Profile of Immunoglobulin G Is Cross-Sectionally Associated With Cardiovascular Disease Risk Score and Subclinical Atherosclerosis in Two Independent Cohorts.

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P2860

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.

http://www.wikidata.org/entity/Q37716764

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 11 October 2012

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vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

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name

Heritable disorders in the met ...... is to molecular glycosylation.

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Heritable disorders in the met ...... is to molecular glycosylation.

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type

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Heritable disorders in the met ...... is to molecular glycosylation.

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Heritable disorders in the met ...... is to molecular glycosylation.

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prefLabel

Heritable disorders in the met ...... is to molecular glycosylation.

@en

Heritable disorders in the met ...... is to molecular glycosylation.

@nl

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

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Heritable disorders in the met ...... is to molecular glycosylation.

@en

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Eva Morava

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K Michael Gibson

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Lynne A Wolfe

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Miao He

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P2860

Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

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322-328

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scholarly article

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10.1002/AJMG.C.31345

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4

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