Genotype-Phenotype Association in <i>ABCC2</i> Exon 18 Missense Mutation Leading to Dubin-Johnson Syndrome: A Case Report.

Kim, Ji-Hoon; Kang, Min-Woo; Kim, Sangmi; Han, Ji Won; Jang, Jeong Won; Choi, Jong Young; Yoon, Seung Kew; Sung, Pil Soo

Genotype-Phenotype Association in ABCC2 Exon 18 Missense Mutation Leading to Dubin-Johnson Syndrome: A Case Report.

Kim, Ji-Hoon; Kang, Min-Woo; Kim, Sangmi; Han, Ji Won; Jang, Jeong Won; Choi, Jong Young; Yoon, Seung Kew; Sung, Pil Soo.

Afiliación

Kim JH; The Catholic University Liver Research Center, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Kang MW; Division of Gastroenterology and Hepatology, Department of Internal Medicine, College of Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Kim S; The Catholic University Liver Research Center, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Han JW; The Catholic University Liver Research Center, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Jang JW; Division of Gastroenterology and Hepatology, Department of Internal Medicine, College of Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Choi JY; The Catholic University Liver Research Center, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Yoon SK; Division of Gastroenterology and Hepatology, Department of Internal Medicine, College of Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Sung PS; The Catholic University Liver Research Center, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.

Int J Mol Sci ; 23(24)2022 Dec 18.

Article en En | MEDLINE | ID: mdl-36555809

Asunto(s)

Colecistitis; Ictericia Idiopática Crónica; Femenino; Humanos; Ictericia Idiopática Crónica/diagnóstico; Ictericia Idiopática Crónica/genética; Ictericia Idiopática Crónica/patología; Proteínas Asociadas a Resistencia a Múltiples Medicamentos/genética; Mutación Missense; Proteína 2 Asociada a Resistencia a Múltiples Medicamentos; Exones; Mutación; Bilirrubina; Estudios de Asociación Genética; Colecistitis/genética

Palabras clave

ABCC2; DubinJohnson syndrome; MRP2; hyperbilirubinemia

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Colecistitis / Ictericia Idiopática Crónica Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Int J Mol Sci Año: 2022 Tipo del documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google