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

Lal, Rayhan A; Moeller, Hannah P; Thomson, Ella A; Horton, Timothy M; Lee, Sooyeon; Freeman, Raquel; Prahalad, Priya; Poon, Ada S Y; Annes, Justin P

Lal, Rayhan A; Moeller, Hannah P; Thomson, Ella A; Horton, Timothy M; Lee, Sooyeon; Freeman, Raquel; Prahalad, Priya; Poon, Ada S Y; Annes, Justin P.

Afiliación

Lal RA; Division of Endocrinology, Department of Medicine, Stanford University, Stanford, CA, USA.
Moeller HP; Division of Endocrinology, Department of Pediatrics, Stanford University, Stanford, CA, USA.
Thomson EA; Stanford Diabetes Research Center, Stanford, CA, USA.
Horton TM; Stanford Diabetes Research Center, Stanford, CA, USA.
Lee S; Department of Chemical and Systems Biology, Stanford University, Stanford, CA, USA.
Freeman R; Department of Electrical Engineering, Stanford University, Stanford, CA, USA.
Prahalad P; Division of Endocrinology, Department of Medicine, Stanford University, Stanford, CA, USA.
Poon ASY; Department of Chemistry, Stanford University, Stanford, CA, USA.
Annes JP; Division of Endocrinology, Department of Medicine, Stanford University, Stanford, CA, USA.

Endocrinology ; 163(2)2022 02 01.

Article en En | MEDLINE | ID: mdl-34888628

Asunto(s)

Cetoacidosis Diabética/genética; Insulina/genética; Mutación Missense; Diabetes Mellitus; Humanos; Lactante; Insulina/metabolismo; Masculino; Modelos Moleculares; Proinsulina/química; Proinsulina/genética; Proinsulina/metabolismo; Pliegue de Proteína

Palabras clave

de novo mutation; human gene mutation; insulin; insulin gene; permanent neonatal diabetes; proinsulin

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cetoacidosis Diabética / Mutación Missense / Insulina Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Endocrinology Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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