A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree.

Rahmani, Behrouz; Fekrmandi, Fatemeh; Ahadi, Keivan; Ahadi, Tannaz; Alavi, Afagh; Ahmadiani, Abolhassan; Asadi, Sareh

Rahmani, Behrouz; Fekrmandi, Fatemeh; Ahadi, Keivan; Ahadi, Tannaz; Alavi, Afagh; Ahmadiani, Abolhassan; Asadi, Sareh.

Afiliación

Rahmani B; Section of Physiology, Department of Basic Sciences, Faculty of Veterinary Medicine, University of Tehran, Tehran, Iran.
Fekrmandi F; Neuroscience Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Ahadi K; Department of Radiation Oncology, University Health Network, Princess Margaret Cancer Centre, Toronto, Canada.
Ahadi T; Department of Orthopaedic Surgery, Milad Hospital, Tehran, Iran.
Alavi A; Neuromusculoskeletal Research Centre, Department of Physical Medicine and Rehabilitation, Iran University of Medical Sciences, Tehran, Iran.
Ahmadiani A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Asadi S; Neuroscience Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

BMC Neurol ; 18(1): 195, 2018 Nov 29.

Article en En | MEDLINE | ID: mdl-30497409

Asunto(s)

Neuropatías Hereditarias Sensoriales y Autónomas/genética; Proteína Quinasa Deficiente en Lisina WNK 1/genética; Codón sin Sentido; Femenino; Humanos; Irán; Masculino; Linaje; Hermanos

Palabras clave

HSAN2; Hereditary sensory and autonomic neuropathies; Nonsense mutation; Whole exome sequencing, WNK1 gene

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropatías Hereditarias Sensoriales y Autónomas / Proteína Quinasa Deficiente en Lisina WNK 1 Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: BMC Neurol Asunto de la revista: NEUROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Irán

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