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A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies.
Nampoothiri, Sheela; Dsouza, Jeanne Maria; Yesodharan, Dhanya; Girisha, Katta M; Eapen, Malini; Sivasankaran Nair, Sajitha; Pillai, Bhanu Vikraman; Radhakrishnan, Periyasamy.
Afiliação
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, India.
  • Dsouza JM; Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, India.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Eapen M; Suma Genomics Private Limited, Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India.
  • Sivasankaran Nair S; Department of Pathology, Amrita Institute of Medical Sciences and Research Centre, Cochin, India.
  • Pillai BV; Department of General Pediatrics, Amrita Institute of Medical Sciences and Research Centre, Cochin, India.
  • Radhakrishnan P; Department of Gastroenterology and Hepatology, Amrita Institute of Medical Sciences and Research Centre, Cochin, India.
Clin Genet ; 103(3): 369-370, 2023 03.
Article em En | MEDLINE | ID: mdl-36349822
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colestase / Colestase Intra-Hepática Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colestase / Colestase Intra-Hepática Idioma: En Ano de publicação: 2023 Tipo de documento: Article