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Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine

✍ Scribed by Cristina Aparicio López; Pilar Anton-Martin; Belén Gil-Fournier; Soraya Ramiro-León; Gustavo Pérez-Nanclares; Guiomar Pérez de Nanclares; Beatriz Martínez Menéndez; Luis Castaño

Publisher
Springer
Year
2011
Tongue
English
Weight
199 KB
Volume
171
Category
Article
ISSN
0340-6997

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An acceptor splice site mutation in the
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
✍ 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