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Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.
Rezwan, Faisal I; Poole, Rebecca L; Prescott, Trine; Walker, Joanna M; Karen Temple, I; Mackay, Deborah J G.
Afiliação
  • Rezwan FI; Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Poole RL; 1] Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Prescott T; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Walker JM; Queen Alexandra Hospital, Portsmouth, UK.
  • Karen Temple I; 1] Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, UK [2] Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Mackay DJ; 1] Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury NHS Foundation Trust, Salisbury, UK.
Eur J Hum Genet ; 23(4): 494-9, 2015 Apr.
Article em En | MEDLINE | ID: mdl-25005734

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pseudo-Hipoparatireoidismo / Deleção de Genes / Subunidades alfa Gs de Proteínas de Ligação ao GTP Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pseudo-Hipoparatireoidismo / Deleção de Genes / Subunidades alfa Gs de Proteínas de Ligação ao GTP Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article