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Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Missense mutations in the calcium-sensing receptor (CaR) gene have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). We studied family members of a Nova Scotian deme expressing both FHH and NSHPT and found, by PCR...

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Main Authors: Janicic, N, Pausova, Z, Cole, D E, Hendy, G N
Formato: Artigo
Idioma:Inglês
Publicado: 1995
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801194/
https://ncbi.nlm.nih.gov/pubmed/7717399
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