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Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis

โœ Scribed by S. H. S. Pearce; C. Wooding; M. Davies; S. E. Tollefsen; M. P. Whyte; R. V. Thakker


Book ID
114425274
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
299 KB
Volume
45
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