SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant

SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant

Background: Hereditary spherocytosis is clinically and genetically heterogeneous disorder and its clinical characteristics are spherocytosis, anaemia, jaundice and splenomegaly. The aetiology is associated to the genes encoding proteins involved in the interaction between the erythrocyte membrane an...

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Bibliographic Details
Main Authors: Anamarija Meglic, Marusa Debeljak, Jernej Kovac, Alenka Trampus Bakija, Vladan Rajic, Nika Kojc, Katarina Trebusak Podkrajsek
Format: Article
Language:Spanish
Published: Elsevier 2020-07-01
Series:Nefrología
Subjects:
Esferocitosis hereditaria
Nefropatía tubulointersticial
Gen de la espectrina βI
UMOD
Nefropatía crónica
Secuenciación de nueva generación
Online Access:http://www.sciencedirect.com/science/article/pii/S0211699520300047

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http://www.sciencedirect.com/science/article/pii/S0211699520300047

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