Condition: Congenital disorder of glycosylation type 1C


rs1036516188 in ALG6 gene and Congenital disorder of glycosylation type 1C PMID 19862844 2009 Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

PMID 14517965 2003 Using complementation analysis of ALG6-deficient yeast, we show that this alteration is as severe as the most common disease-causing mutation, c998C>T (p. Ala333Val), which occurs in over half of all known CDG-Ic patients.

PMID 20447155 2010 Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.

PMID 10359825 1999 A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.

PMID 11134235 2001 A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

PMID 12855228 2003 The discovery of the common CDG-Ic mutation A333V in an Indian population raises questions as to its ethnic origin.

PMID 10924277 2000 Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.

PMID 10852543 2000 Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

PMID 23430515 2013 ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

PMID 15771971 2005 [Molecular diagnosis of congenital disorders of glycosylation].

PMID 11106564 2000 The maternal mutation, C998T, causing an A333V substitution, has been shown to cause CDG-Ic, whereas the two paternal mutations, T391C (Y131H) and C924A (S308R) have not previously been reported.

PMID 10914684 2000 Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

PMID 23044053 2013 Congenital disorder of glycosylation type Ic: report of a Japanese case.

PMID 12357336 2002 DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

PMID 14517965 2003 Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.

PMID 11106564 2000 Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

PMID 11106564 2000 The maternal mutation, C998T, causing an A333V substitution, has been shown to cause CDG-Ic, whereas the two paternal mutations, T391C (Y131H) and C924A (S308R) have not previously been reported.

PMID 14517965 2003 Thus, it is unclear whether c.391T>C causes CDG-Ic or contributes to the symptoms.

PMID 27287710 2016 ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

PMID 12855228 2003 Congenital disorder of glycosylation Ic in patients of Indian origin.

PMID 26453362 2016 Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).

PMID 16007612 2005 Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.