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Targeted gene under study:
B4GALT5
Abstract
No disorder due to B4GALT5 deficiency has been reported so far. We are looking for cases carrying variants in B4GALT5 gene to functionally validate B4GALT5 variants and to define the phenotype of B4GALT5 related disorder.
Coordinating team
Alessandro De Falco – a.defalco@tigem.it
Nicola Brunetti-Pierri
Institutions
University Hospital Federico II, Naples, Italy
Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No