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
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
โ Scribed by Dsouza-Li, Lilia (author);Canaff, Lucie (author);Janicic, Natasa (author);Cole, David E.C. (author);Hendy, Geoffrey N. (author)
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 595 KB
- Volume
- 18
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
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
Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in