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Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia

โœ Scribed by Ching-Wan Lam; Ka-Fai Lee; Angel On-Kei Chan; Priscilla Miu-Kuen Poon; Tak-Yin Law; Sui-Fan Tong


Book ID
116350241
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
207 KB
Volume
360
Category
Article
ISSN
0009-8981

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โœ Dsouza-Li, Lilia (author);Canaff, Lucie (author);Janicic, Natasa (author);Cole, ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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