Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.

Rashvand, Zahra; Kahrizi, Kimia; Najmabadi, Hossein; Najafipour, Reza; Omrani, Mir Davood

Rashvand, Zahra; Kahrizi, Kimia; Najmabadi, Hossein; Najafipour, Reza; Omrani, Mir Davood.

Afiliación

Rashvand Z; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Kahrizi K; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Najafipour R; Cellular and Molecular Research Centre, Qazvin University of Medical Sciences, Qazvin, Iran.
Omrani MD; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Iran Biomed J ; 25(2): 132-9, 2021 03 01.

Article en En | MEDLINE | ID: mdl-33400472

Asunto(s)

Empalme Alternativo/genética; Colestanotriol 26-Monooxigenasa/genética; Predisposición Genética a la Enfermedad; Xantomatosis Cerebrotendinosa/genética; Adulto; Secuencia de Bases; Familia; Femenino; Humanos; Irán; Masculino; Persona de Mediana Edad; Mutación/genética; Linaje

Palabras clave

Cerebrotendinous xanthomatosis; CYP27A1; Intellectual disability; Iran; Whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Asunto principal: Empalme Alternativo / Xantomatosis Cerebrotendinosa / Predisposición Genética a la Enfermedad / Colestanotriol 26-Monooxigenasa Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Iran Biomed J Asunto de la revista: BIOLOGIA / MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Irán

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