Novel dominant K<sub>ATP</sub> channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

Boodhansingh, Kara E; Kandasamy, Balamurugan; Mitteer, Lauren; Givler, Stephanie; De Leon, Diva D; Shyng, Show-Ling; Ganguly, Arupa; Stanley, Charles A

Novel dominant K_ATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

Boodhansingh, Kara E; Kandasamy, Balamurugan; Mitteer, Lauren; Givler, Stephanie; De Leon, Diva D; Shyng, Show-Ling; Ganguly, Arupa; Stanley, Charles A.

Afiliación

Boodhansingh KE; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kandasamy B; Department of Biochemistry and Molecular Biology, Oregon Health & Science University, Portland, Oregon.
Mitteer L; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Givler S; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
De Leon DD; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Shyng SL; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Ganguly A; Department of Biochemistry and Molecular Biology, Oregon Health & Science University, Portland, Oregon.
Stanley CA; Department of Genetics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Am J Med Genet A ; 179(11): 2214-2227, 2019 11.

Article en En | MEDLINE | ID: mdl-31464105

Asunto(s)

Hiperinsulinismo Congénito/diagnóstico; Hiperinsulinismo Congénito/genética; Estudios de Asociación Genética; Predisposición Genética a la Enfermedad; Canales KATP/genética; Mutación; Alelos; Análisis Mutacional de ADN; Femenino; Frecuencia de los Genes; Genotipo; Humanos; Lactante; Canales KATP/química; Masculino; Linaje; Fenotipo; Relación Estructura-Actividad

Palabras clave

diazoxide; genetics; hypoglycemia; pancreatectomy; pancreatic beta-cells

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Hiperinsulinismo Congénito / Canales KATP / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google