๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report

โœ Scribed by Wael F Elamin, Olivier de Buyl


Book ID
120719122
Publisher
BioMed Central
Year
2010
Tongue
English
Weight
831 KB
Volume
4
Category
Article
ISSN
1752-1947

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


An acceptor splice site mutation in the
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

Neonatal severe hyperparathyroidism, sec
โœ Cole, David E. C.; Janicic, Natas??a; Salisbury, Sonia R.; Hendy, Geoffrey N. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 43 KB ๐Ÿ‘ 2 views

Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomalrecessive disorder, attributable in many cases to homozygous inactivating mutations of the Ca ++ -sensing receptor (CASR) gene at 3q13.3-21. Most heterozygotes are clinically asymptomatic but manifest as familial (benign) hypocalc