Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome

Atypical haemolytic uremic syndrome (aHUS) is a clinically and genetically heterogeneous condition caused by a complex interplay between genomic susceptibility factors and environmental influences. Pathogenic variants in the DGKE gene are recently identified in cases with infantile-onset autosomal r...

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Detalles Bibliográficos
Autores principales: Sharma, Jyoti, Lobo, Valentine, Singhal, Jyoti, Anand, Siddharth, Kadam, Sandeep, Ranade, Shatakshi, Gangodkar, Priyanka, Ganesan, Karthik, Phadke, Nikhil, Agarwal, Meenal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8240919/
https://www.ncbi.nlm.nih.gov/pubmed/34267444
http://dx.doi.org/10.4103/ijn.IJN_336_19

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