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Autor:
Fred Santoni, Valerie M. Schwitzgebel, Jean-Louis Blouin, Norann A. Zaghloul, Caroline Stekelenburg, Elizabeth A. O'Hare
Publikováno v:
Diabetes. 67
Background/Introduction: Using whole exome sequencing we identified a truncating mutation in the KIAA2022 gene in a child with mental retardation and antibody-negative diabetes. The KIAA2022 gene encodes a large protein of 1516 amino acids, which has