Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene-Reference-Cited by-同舟云学术

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene

Published:1997-08-08 Issue:2 Volume:71 Page:202-210
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cole David E. C.,Janicic Natas??a,Salisbury Sonia R.,Hendy Geoffrey N.

Publisher

Wiley

Subject

Genetics(clinical)

Reference55 articles.

1. , , , , , (eds) (1987) “Current Protocols in Molecular Biology.” New York: John Wiley & Sons.

2. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.

3. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

4. Standardized nomenclature for Alu repeats

5. Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid

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