Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.

Daou, Melissa; Souaid, Mirna; Yammine, Tony; Khneisser, Issam; Mansour, Hicham; Salem, Nabiha; Nemr, Antony; Awwad, Johnny; Moukarzel, Adib; Farra, Chantal

Daou, Melissa; Souaid, Mirna; Yammine, Tony; Khneisser, Issam; Mansour, Hicham; Salem, Nabiha; Nemr, Antony; Awwad, Johnny; Moukarzel, Adib; Farra, Chantal.

Afiliação

Daou M; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.
Souaid M; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.
Yammine T; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.
Khneisser I; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.
Mansour H; Department of Pediatrics, Saint Georges Hospital, Beirut, Lebanon.
Salem N; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.
Nemr A; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.
Awwad J; Departement of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.
Moukarzel A; Department of Pediatrics, Hotel Dieu de France, Beirut, Lebanon.
Farra C; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.

Mol Genet Genomic Med ; 11(2): e2058, 2023 02.

Article em En | MEDLINE | ID: mdl-36680390

Assuntos

Citrulinemia; Humanos; Citrulinemia/genética; Argininossuccinato Sintase/genética; Mutação; Genótipo; RNA

Palavras-chave

ASS1; argininosuccinate synthetase; citrullinemia type 1

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Citrulinemia Limite: Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Líbano

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