Novel Pathogenic De Novo INS p.T97P Variant Presenting With Severe Neonatal DKA.

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作者： Rayhan A,Lal ^[1] ; Hannah P,Moeller ^[2] ; Ella A,Thomson ^[3] ; Timothy M,Horton ^[4] ; Sooyeon,Lee ^[5] ; Raquel,Freeman ^[6] ; Priya,Prahalad ^[7] ; Ada S Y,Poon ^[3] ; Justin P,Annes ^[8]

作者单位： Division of Endocrinology, Department of Medicine, Stanford University, Stanford, CA, USA.;Division of Endocrinology, Department of Pediatrics, Stanford University, Stanford, CA, USA.;Stanford Diabetes Research Center, Stanford, CA, USA. ^[1] Stanford Diabetes Research Center, Stanford, CA, USA.;Department of Chemical and Systems Biology, Stanford University, Stanford, CA, USA. ^[2] Department of Electrical Engineering, Stanford University, Stanford, CA, USA. ^[3] Division of Endocrinology, Department of Medicine, Stanford University, Stanford, CA, USA.;Department of Chemistry, Stanford University, Stanford, CA, USA. ^[4] Division of Endocrinology, Department of Medicine, Stanford University, Stanford, CA, USA. ^[5] Department of Bioengineering, Stanford University, Stanford, CA, USA. ^[6] Division of Endocrinology, Department of Pediatrics, Stanford University, Stanford, CA, USA.;Stanford Diabetes Research Center, Stanford, CA, USA. ^[7] Division of Endocrinology, Department of Medicine, Stanford University, Stanford, CA, USA.;Stanford Diabetes Research Center, Stanford, CA, USA. ^[8]

关键词 de novo mutation human gene mutation insulin insulin gene permanent neonatal diabetes proinsulin