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Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a

INTRODUCTION: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. MATERIALS AND METHODS: DNA sequenci...

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Detalhes bibliográficos
Publicado no:Case Rep Endocrinol
Main Authors: Moutinho, Adelaide, Carvalho, Rosa, Ferreira Reis, Rita, Tavares, Sandra
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5896320/
https://ncbi.nlm.nih.gov/pubmed/29796323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/7813591
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