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SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant
Esferocitosis relacionada con SPTB en tres generaciones de una familia con insuficiencia cardíaca en la edad adulta debido a la presentación conjunta de la variante de UMOD causante de la enfermedad
Anamarija Meglica, Marusa Debeljakb, Jernej Kovacb, Alenka Trampus Bakijab, Vladan Rajicc, Nika Kojcd, Katarina Trebusak Podkrajsekb,e,
Corresponding author
a University Medical Centre Ljubljana, University Children's Hospital, Department of Nephrology, Ljubljana, Slovenia
b University Medical Centre Ljubljana, University Children's Hospital, Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia
c University Medical Centre Ljubljana, University Children's Hospital, Department of Haematology and Oncology, Ljubljana, Slovenia
d University of Ljubljana, Faculty of Medicine, Institute of Pathology, Ljubljana, Slovenia
e University of Ljubljana, Faculty of Medicine, Institute of Biochemistry, Ljubljana, Slovenia
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ISSN: 20132514
Original language: English
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