Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families.

Chandrasekharan, Soumya V; Nair, Sruthi S; Ganapathy, Aparna; Mannan, Ashraf U; Sundaram, Soumya

Chandrasekharan, Soumya V; Nair, Sruthi S; Ganapathy, Aparna; Mannan, Ashraf U; Sundaram, Soumya.

Afiliación

Chandrasekharan SV; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Nair SS; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Ganapathy A; Strand Life Sciences, Bangalore, India.
Mannan AU; Strand Life Sciences, Bangalore, India.
Sundaram S; Pediatric Neurology and Neurodevelopmental Disorders, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, 695011, Kerala, India. ssdr.soumya@gmail.com.

Neurol Sci ; 43(1): 719-722, 2022 01.

Article en En | MEDLINE | ID: mdl-34668123

Asunto(s)

Enfermedad de Charcot-Marie-Tooth; Proteínas de Unión al ADN; Factores de Transcripción; Enfermedad de Charcot-Marie-Tooth/genética; Proteínas de Unión al ADN/genética; Humanos; Mutación Missense; Linaje; Fenotipo; Factores de Transcripción/genética

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Enfermedad de Charcot-Marie-Tooth / Proteínas de Unión al ADN Límite: Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: India

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