Investigating the genetic profile of familial atypical cystic fibrosis patients (DeltaF508-CFTR) with neonatal biliary atresia.

Altamimi, Eyad; Rabab'h, Omar; Aburizeg, Dunia; Akasheh, Lynn; Dardas, Zain; Srour, Luma; Awad, Heyam; Azab, Bilal

Altamimi, Eyad; Rabab'h, Omar; Aburizeg, Dunia; Akasheh, Lynn; Dardas, Zain; Srour, Luma; Awad, Heyam; Azab, Bilal.

Afiliação

Altamimi E; Pediatric Department, Faculty of Medicine, Jordan University of Science and Technology, PO Box 3030, Irbid, 22110, Jordan. emaltamimi@just.edu.jo.
Rabab'h O; Interdisciplinary Graduate Program in Genetics, University of Iowa, New York, IA, 52242, USA.
Aburizeg D; Department of Pathology and Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, 11942, Jordan.
Akasheh L; Department of Pathology and Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, 11942, Jordan.
Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Srour L; Department of Pathology and Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, 11942, Jordan.
Awad H; Department of Pathology and Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, 11942, Jordan.
Azab B; Department of Pathology and Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, 11942, Jordan. ba2659@cumc.columbia.edu.

J Appl Genet ; 64(1): 71-80, 2023 Feb.

Article em En | MEDLINE | ID: mdl-36205856

Assuntos

Atresia Biliar; Fibrose Cística; Humanos; Recém-Nascido; Fibrose Cística/genética; Fibrose Cística/diagnóstico; Regulador de Condutância Transmembrana em Fibrose Cística/genética; Atresia Biliar/genética; Perfil Genético; Mutação; Fatores de Transcrição/genética; Proteínas de Homeodomínio/genética

Palavras-chave

Biliary atresia (BA); Cystic fibrosis (CF); SNAPC4; UCK1; ZHX2

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atresia Biliar / Fibrose Cística Tipo de estudo: Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: J Appl Genet Assunto da revista: GENETICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Jordânia

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