Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous <i>CLCNKB</i> mutation.

Nojehdeh, Somayeh Takrim; Mojbafan, Marzieh; Hooman, Nakysa; Hoseini, Rozita; Otukesh, Hasan

Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation.

Nojehdeh, Somayeh Takrim; Mojbafan, Marzieh; Hooman, Nakysa; Hoseini, Rozita; Otukesh, Hasan.

Afiliação

Nojehdeh ST; Dr. Davarnia Genetic Counseling and Diagnosis Center Imam Reza Hospital Ardabil Iran.
Mojbafan M; Department of Medical Genetics, School of Medicine Iran University of Medical Sciences (IUMS) Tehran Iran.
Hooman N; Department of Medical Genetics Ali-Asghar Children's Hospital Tehran Iran.
Hoseini R; Clinical research Development Center Iran University of Medical Sciences Tehran Iran.
Otukesh H; Department of Pediatric Nephrology Ali-Asghar Children's Hospital Tehran Iran.

Clin Case Rep ; 10(12): e6698, 2022 Dec.

Article em En | MEDLINE | ID: mdl-36514463

Palavras-chave

Bartter syndrome; CLCkb; In silico analysis; sanger sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2022 Tipo de documento: Article

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