New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 Deficiency.

Eldredge, Jessica A; Couper, Michael R; Barnett, Christopher P; Rawlings, Lesley; Couper, Richard T L

Eldredge, Jessica A; Couper, Michael R; Barnett, Christopher P; Rawlings, Lesley; Couper, Richard T L.

Afiliación

Eldredge JA; Department of Gastroenterology, Women's & Children's Hospital, Adelaide, South Australia.
Couper MR; Department of Gastroenterology, Women's & Children's Hospital, Adelaide, South Australia.
Barnett CP; Paediatric and Reproductive Genetics Unit, Women's & Children's Hospital, Adelaide, South Australia; School of Paediatrics, University of Adelaide, Adelaide, South Australia.
Rawlings L; Genomics Unit, Genetics & Molecular Pathology, SA Pathology, Adelaide, South Australia.
Couper RTL; Department of Gastroenterology, Women's & Children's Hospital, Adelaide, South Australia; School of Paediatrics, University of Adelaide, Adelaide, South Australia. Electronic address: Richard.couper@sa.gov.au.

J Pediatr ; 233: 268-272, 2021 06.

Article en En | MEDLINE | ID: mdl-33607125

Asunto(s)

ADN/genética; Diacilglicerol O-Acetiltransferasa/genética; Diarrea/genética; Mutación; Biomarcadores/sangre; Análisis Mutacional de ADN; Diacilglicerol O-Acetiltransferasa/sangre; Diarrea/sangre; Diarrea/enzimología; Humanos; Recién Nacido; Masculino

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 2_ODS3 / 3_ND Problema de salud: 2_enfermedades_transmissibles / 3_diarrhea / 3_neglected_diseases Asunto principal: ADN / Diarrea / Diacilglicerol O-Acetiltransferasa / Mutación Tipo de estudio: Risk_factors_studies Límite: Humans / Male / Newborn Idioma: En Revista: J Pediatr Año: 2021 Tipo del documento: Article

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