Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Congenital disorder of glycosylation 1N is an autosomal recessive disorder. It is caused by mutations of the RFT1 gene.
Congenital disorder of glycosylation
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Congenital disorder of glycosylation 1A
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Congenital disorder of glycosylation 1L
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Congenital disorder of glycosylation 1N
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RFT1
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Gillessen-Kaesbach-Nishimura syndrome
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| 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
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| 9. |
Orphanet article Orphanet ID 244310
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