Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth.

Mohsenpour, Neda; Roknizadeh, Hassan; Maghbooli, Mehdi; Changi-Ashtiani, Majid; Shahrooei, Mohammad; Salehi, Mansoor; Behnam, Mahdiyeh; Shahani, Tina; Biglari, Alireza

Mohsenpour, Neda; Roknizadeh, Hassan; Maghbooli, Mehdi; Changi-Ashtiani, Majid; Shahrooei, Mohammad; Salehi, Mansoor; Behnam, Mahdiyeh; Shahani, Tina; Biglari, Alireza.

Afiliación

Mohsenpour N; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
Roknizadeh H; Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
Maghbooli M; Department of Neurology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
Changi-Ashtiani M; School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.
Shahrooei M; Experimental Laboratory Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium.
Salehi M; Specialized Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran.
Behnam M; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Shahani T; Department of Genetics, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.
Biglari A; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Int J Mol Cell Med ; 8(3): 169-178, 2019.

Article en En | MEDLINE | ID: mdl-32489946

Palabras clave

BSCL2; GJB1; Iranian Charcot-Marie-Tooth patients; whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Int J Mol Cell Med Año: 2019 Tipo del documento: Article País de afiliación: Irán

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