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X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.
Milovidova, T B; Schagina, O A; Freire, M V; Demina, N A; Filatova, A Y; Skoblov, M Y; Stepanova, A A; Chuhrova, A L; Polyakov, A V.
Afiliación
  • Milovidova TB; Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.
  • Schagina OA; Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.
  • Freire MV; Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.
  • Demina NA; Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.
  • Filatova AY; Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.
  • Skoblov MY; Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.
  • Stepanova AA; Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.
  • Chuhrova AL; Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.
  • Polyakov AV; Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.
J Eur Acad Dermatol Venereol ; 33(12): e468-e470, 2019 Dec.
Article en En | MEDLINE | ID: mdl-31306530
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Displasia Ectodermal Anhidrótica Tipo 1 / Mutación Límite: Female / Humans / Male País/Región como asunto: Asia / Europa Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2019 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Displasia Ectodermal Anhidrótica Tipo 1 / Mutación Límite: Female / Humans / Male País/Región como asunto: Asia / Europa Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2019 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Reino Unido