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Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.
Rubtsov, Petr; Nizhnik, Alexander; Dedov, Ivan; Kalinchenko, Natalia; Petrov, Vasily; Orekhova, Anna; Spirin, Pavel; Prassolov, Vladimir; Tiulpakov, Anatoly.
Afiliación
  • Rubtsov P; Department and Laboratory of Inherited Endocrine DisordersEndocrinology Research Centre, Ulitsa Dmitriya Ulianova, 11, Moscow 117036, Russian FederationEngelhardt Institute of Molecular BiologyMoscow 119991, Russian FederationInstitute of Physics and TechnologyMoscow Region 141700, Russian Federatio
  • Nizhnik A; Department and Laboratory of Inherited Endocrine DisordersEndocrinology Research Centre, Ulitsa Dmitriya Ulianova, 11, Moscow 117036, Russian FederationEngelhardt Institute of Molecular BiologyMoscow 119991, Russian FederationInstitute of Physics and TechnologyMoscow Region 141700, Russian Federatio
  • Dedov I; Department and Laboratory of Inherited Endocrine DisordersEndocrinology Research Centre, Ulitsa Dmitriya Ulianova, 11, Moscow 117036, Russian FederationEngelhardt Institute of Molecular BiologyMoscow 119991, Russian FederationInstitute of Physics and TechnologyMoscow Region 141700, Russian Federatio
  • Kalinchenko N; Department and Laboratory of Inherited Endocrine DisordersEndocrinology Research Centre, Ulitsa Dmitriya Ulianova, 11, Moscow 117036, Russian FederationEngelhardt Institute of Molecular BiologyMoscow 119991, Russian FederationInstitute of Physics and TechnologyMoscow Region 141700, Russian Federatio
  • Petrov V; Department and Laboratory of Inherited Endocrine DisordersEndocrinology Research Centre, Ulitsa Dmitriya Ulianova, 11, Moscow 117036, Russian FederationEngelhardt Institute of Molecular BiologyMoscow 119991, Russian FederationInstitute of Physics and TechnologyMoscow Region 141700, Russian Federatio
  • Orekhova A; Department and Laboratory of Inherited Endocrine DisordersEndocrinology Research Centre, Ulitsa Dmitriya Ulianova, 11, Moscow 117036, Russian FederationEngelhardt Institute of Molecular BiologyMoscow 119991, Russian FederationInstitute of Physics and TechnologyMoscow Region 141700, Russian Federatio
  • Spirin P; Department and Laboratory of Inherited Endocrine DisordersEndocrinology Research Centre, Ulitsa Dmitriya Ulianova, 11, Moscow 117036, Russian FederationEngelhardt Institute of Molecular BiologyMoscow 119991, Russian FederationInstitute of Physics and TechnologyMoscow Region 141700, Russian Federatio
  • Prassolov V; Department and Laboratory of Inherited Endocrine DisordersEndocrinology Research Centre, Ulitsa Dmitriya Ulianova, 11, Moscow 117036, Russian FederationEngelhardt Institute of Molecular BiologyMoscow 119991, Russian FederationInstitute of Physics and TechnologyMoscow Region 141700, Russian Federatio
  • Tiulpakov A; Department and Laboratory of Inherited Endocrine DisordersEndocrinology Research Centre, Ulitsa Dmitriya Ulianova, 11, Moscow 117036, Russian FederationEngelhardt Institute of Molecular BiologyMoscow 119991, Russian FederationInstitute of Physics and TechnologyMoscow Region 141700, Russian Federatio
Eur J Endocrinol ; 172(5): K19-25, 2015 May.
Article en En | MEDLINE | ID: mdl-25650406
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esteroide 17-alfa-Hidroxilasa / Hiperplasia Suprarrenal Congénita / Mutación Missense / Citocromos / Hemo Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esteroide 17-alfa-Hidroxilasa / Hiperplasia Suprarrenal Congénita / Mutación Missense / Citocromos / Hemo Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido