Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation-Reference-Cited by-同舟云学术

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Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation

Published:2023-03 Issue:3 Volume:66 Page:104709
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Fiumara Agata,Sapuppo Annamaria,Ferri Lorenzo,Arena Alessia,Prato Adriana,Garozzo Domenico,Sturiale Luisa,Morrone Amelia,Barone Rita^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference21 articles.

1. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up;Altassan;J. Inherit. Metab. Dis.,2019

2. Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx;Calvo;J. Inherit. Metab. Dis.,2008

3. Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin;Carchon;Clin. Chem.,2004

4. TMEM199-Congenital disorder of glycosylation with novel phenotype and genotype in a Chinese boy;Fang;Front. Genet.,2022

5. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa;Guillard;Biochim. Biophys. Acta,2009

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