CASRdb -- calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

What you can do:
Search for mutations causing defective CASR gene and related clinical information.
Highlights:
  • To better understand the mutations causing defects in the CASR gene and to define specific regions relevant for ligand-receptor interaction and other receptor functions, the data on mutations were collected and the information was centralized in the CASRdb, which is easily and quickly accessible by search engines for retrieval of specific information.
  • The information can be searched by mutation, genotype-phenotype, clinical data, in vitro analyses, and authors of publications describing the mutations.
Keywords:
  • calcium-sensing receptor mutations
  • CASR mutation
  • ligand-receptor interaction
  • Familial hypocalciuric hypercalcemia
  • neonatal severe hyperparathyroidism
  • autosomal dominant hypocalcemia
  • human genetic mutations
  • human genetic disorders
  • human genetic diseases
This record last updated: 06-28-2006
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