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Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.
López-Lera, Alberto; Torres-Canizales, Juan M; Garrido, Sofía; Morales, Adelaida; López-Trascasa, Margarita.
Afiliação
  • López-Lera A; Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain. Electronic address: alberlole@gmail.com.
  • Torres-Canizales JM; Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain.
  • Garrido S; Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Morales A; Nephrology Unit from Hospital Dr Molina Orosa. Ctra. Arrecife-Tinajo, Lanzarote, Spain.
  • López-Trascasa M; Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain. Electronic address: a_lopezlera@yahoo.es.
J Invest Dermatol ; 134(4): 1152-1154, 2014 Apr.
Article em En | MEDLINE | ID: mdl-24157463
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rothmund-Thomson / Complemento C1q / Glomerulonefrite Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Humans / Male País/Região como assunto: Europa Idioma: En Revista: J Invest Dermatol Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rothmund-Thomson / Complemento C1q / Glomerulonefrite Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Humans / Male País/Região como assunto: Europa Idioma: En Revista: J Invest Dermatol Ano de publicação: 2014 Tipo de documento: Article