A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

BACKGROUND: Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3 (EIF2AK3) gene. METHODS: Gene...

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Detalles Bibliográficos
Autores principales: Sümegi, Andrea, Hendrik, Zoltán, Gáll, Tamás, Felszeghy, Enikő, Szakszon, Katalin, Antal-Szalmás, Péter, Beke, Lívia, Papp, Ágnes, Méhes, Gábor, Balla, József, Balla, György
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099831/
https://www.ncbi.nlm.nih.gov/pubmed/32216767
http://dx.doi.org/10.1186/s12881-020-0985-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099831/
https://www.ncbi.nlm.nih.gov/pubmed/32216767
http://dx.doi.org/10.1186/s12881-020-0985-6

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