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Functional Studies on the IBD Susceptibility Gene IL23R Implicate Reduced Receptor Function in the Protective Genetic Variant R381Q.
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- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0025038
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- Article
Functional Characterization of Calcium-Sensing Receptor Codon 227 Mutations Presenting as Either Familial (Benign) Hypocalciuric Hypercalcemia or Neonatal Hyperparathyroidism.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 2, p. 864, doi. 10.1210/jc.2004-1791
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- Article
Recurrent Familial Hypocalcemia Due to Germline Mosaicism for an Activating Mutation of the CalciumSensing Receptor Gene.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 8, p. 3674, doi. 10.1210/jc.2003-030409
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- Article
CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
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- Human Mutation, 2004, v. 24, n. 2, p. 107, doi. 10.1002/humu.20067
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- Article
Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.
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- Human Molecular Genetics, 2006, v. 15, n. 14, p. 2200, doi. 10.1093/hmg/ddl145
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- Article
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
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- Human Molecular Genetics, 2005, v. 14, n. 12, p. 1679, doi. 10.1093/hmg/ddi176
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- Article