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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-25650406
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Esteroide 17-alfa-Hidroxilase / Hiperplasia Suprarrenal Congênita / Mutação de Sentido Incorreto / Citocromos / Heme Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: Eur J Endocrinol Assunto da revista: ENDOCRINOLOGIA Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Esteroide 17-alfa-Hidroxilase / Hiperplasia Suprarrenal Congênita / Mutação de Sentido Incorreto / Citocromos / Heme Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: Eur J Endocrinol Assunto da revista: ENDOCRINOLOGIA Ano de publicação: 2015 Tipo de documento: Article