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Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
Cinque, Luigia; Sparaneo, Angelo; Penta, Laura; Mencarelli, Amedea; Rogaia, Daniela; Esposito, Susanna; Fabrizio, Federico Pio; Baorda, Filomena; Verrotti, Alberto; Falorni, Alberto; Stangoni, Gabriela; Hendy, Geoffrey N; Guarnieri, Vito; Prontera, Paolo.
Afiliação
  • Cinque L; Medical Genetics and Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia 71013, Italy.
  • Sparaneo A; Medical Genetics and Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia 71013, Italy.
  • Penta L; Department of Pediatrics, University of Perugia, Perugia 06100, Italy.
  • Mencarelli A; Regional Reference Centre for Medical Genetics, "Santa Maria della Misericordia" Hospital, Perugia 06129, Italy.
  • Rogaia D; Regional Reference Centre for Medical Genetics, "Santa Maria della Misericordia" Hospital, Perugia 06129, Italy.
  • Esposito S; Department of Pediatrics, University of Perugia, Perugia 06100, Italy.
  • Fabrizio FP; Medical Genetics and Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia 71013, Italy.
  • Baorda F; Medical Genetics and Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia 71013, Italy.
  • Verrotti A; Department of Paediatrics, University of L'Aquila, L'Aquila 67100, Italy.
  • Falorni A; Section of Internal Medicine and Endocrine and Metabolic Sciences, Department of Medicine, University of Perugia, Perugia 06100, Italy.
  • Stangoni G; Regional Reference Centre for Medical Genetics, "Santa Maria della Misericordia" Hospital, Perugia 06129, Italy.
  • Hendy GN; Metabolic Disorders and Complications, McGill University Health Centre Research Institute, Montreal, Quebec H4A 3J1, Canada.
  • Guarnieri V; Department of Medicine, McGill University, Montreal, Quebec H4A 3J1, Canada.
  • Prontera P; Department of Physiology, McGill University, Montreal, Quebec H3G 1Y6, Canada.
J Clin Endocrinol Metab ; 102(11): 3961-3969, 2017 11 01.
Article em En | MEDLINE | ID: mdl-28938448
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hormônio Paratireóideo / Sinais Direcionadores de Proteínas / Genes Dominantes / Hipoparatireoidismo Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hormônio Paratireóideo / Sinais Direcionadores de Proteínas / Genes Dominantes / Hipoparatireoidismo Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália