Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Na<sub>v</sub>1.7.

He, Wen; Young, Gareth T; Zhang, Baohong; Cox, Peter J; Cho, Lily Ting-Yin; John, Sally; Paciga, Sara A; Wood, Linda S; Danziger, Nicolas; Scollen, Serena; Vangjeli, Ciara

Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Na_v1.7.

He, Wen; Young, Gareth T; Zhang, Baohong; Cox, Peter J; Cho, Lily Ting-Yin; John, Sally; Paciga, Sara A; Wood, Linda S; Danziger, Nicolas; Scollen, Serena; Vangjeli, Ciara.

Afiliación

He W; Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT, 06340, USA. Wen.He@pfizer.com.
Young GT; Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS, UK.
Zhang B; Pfizer Inc, 300 Technology Square, Cambridge, MA, 02139, USA.
Cox PJ; Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS, UK.
Cho LT; Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS, UK.
John S; Pfizer Inc, 300 Technology Square, Cambridge, MA, 02139, USA.
Paciga SA; Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT, 06340, USA.
Wood LS; Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT, 06340, USA.
Danziger N; Pain Center, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Scollen S; Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS, UK.
Vangjeli C; Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS, UK.

BMC Med Genet ; 19(1): 124, 2018 07 23.

Article en En | MEDLINE | ID: mdl-30037327

Asunto(s)

Canal de Sodio Activado por Voltaje NAV1.7/genética; Línea Celular; Codón sin Sentido/genética; Fenómenos Electrofisiológicos/genética; Femenino; Células HEK293; Humanos; Masculino; Mutación/genética; Linaje; Secuenciación del Exoma/métodos

Palabras clave

Nav1.7; Pain; SCN9A; SNV; Whole exome sequencing

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Canal de Sodio Activado por Voltaje NAV1.7 Límite: Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google