Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.

Mutlu-Albayrak, Hatice; Bene, Judit; Oflaz, Mehmet Burhan; Tanyalçin, Tijen; Çaksen, Hüseyin; Melegh, Bela

Mutlu-Albayrak, Hatice; Bene, Judit; Oflaz, Mehmet Burhan; Tanyalçin, Tijen; Çaksen, Hüseyin; Melegh, Bela.

Afiliación

Mutlu-Albayrak H; Division of Pediatric Genetics, Department of Pediatrics, Meram Medical Faculty, University of Necmettin Erbakan, Meram, 42080 Konya, Turkey.
Bene J; Department of Medical Genetics, University of Pécs, Pécs, Hungary ; Szentagothai Research Centre, University of Pécs, Pécs, Hungary.
Oflaz MB; Division of Pediatric Cardiology, Department of Pediatrics, Meram Medical Faculty, University of Necmettin Erbakan, Meram, 42080 Konya, Turkey.
Tanyalçin T; Tanyalcin Medical Laboratory, Selective Screening and Metabolism Unit, Izmir, Turkey.
Çaksen H; Division of Pediatric Genetics, Department of Pediatrics, Meram Medical Faculty, University of Necmettin Erbakan, Meram, 42080 Konya, Turkey.
Melegh B; Department of Medical Genetics, University of Pécs, Pécs, Hungary ; Szentagothai Research Centre, University of Pécs, Pécs, Hungary.

Case Rep Genet ; 2015: 259627, 2015.

Article en En | MEDLINE | ID: mdl-26075114

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Case Rep Genet Año: 2015 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Estados Unidos

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