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Congenital disorder of glycosylation 1N

Congenital disorder of glycosylation 1N is an autosomal recessive disorder. It is caused by mutations of the RFT1 gene.

Systematic

Congenital disorder of glycosylation
Congenital disorder of glycosylation 1A
Congenital disorder of glycosylation 1L
Congenital disorder of glycosylation 1N
RFT1
Gillessen-Kaesbach-Nishimura syndrome

References:

1.

Haeuptle MA et al. (2008) Human RFT1 deficiency leads to a disorder of N-linked glycosylation.

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2.

Vleugels W et al. (2009) RFT1 deficiency in three novel CDG patients.

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3.

Jaeken J et al. (2009) RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.

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4.

Ondruskova N et al. (2012) RFT1-CDG in adult siblings with novel mutations.

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5.

Imtiaz F et al. (2000) Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

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6.

Stibler H et al. (1998) Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.

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7.

None (2006) Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.

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8.

OMIM.ORG article

Omim 612015 external link
9.

Orphanet article

Orphanet ID 244310 external link
Update: Aug. 14, 2020
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