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Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene

✍ Scribed by J. Rodríguez-Soriano; Alfredo Vallo; María Jesús Quintela; Guiomar Pérez de Nanclares; José Ramón Bilbao; Luis Castaño


Book ID
106163100
Publisher
Springer
Year
2001
Tongue
English
Weight
79 KB
Volume
16
Category
Article
ISSN
0931-041X

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✍ Dsouza-Li, Lilia (author);Canaff, Lucie (author);Janicic, Natasa (author);Cole, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 595 KB

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