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Novel mutation of the calcium sensing receptor gene in familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism

โœ Scribed by Simone Caixeta de Andrade; Suely Keiko Kohara; Lilia D'Souza-Li


Book ID
108703534
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
119 KB
Volume
65
Category
Article
ISSN
0300-0664

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We studied family members of a large kindred expressing both familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) and found, by PCR amplification of the extracellular calcium-sensing receptor (CASR) gene exons and flanking intronic sequences, that FHH individual

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