✦ LIBER ✦

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

✍ Scribed by Geoffrey N. Hendy; Lilia D'Souza-Li; Bing Yang; Lucie Canaff; David E.C. Cole

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 391 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200010)16:4<281::aid-humu1>3.0.co;2-a

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Neonatal severe hyperparathyroidism, sec

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

✍ Cole, David E. C.; Janicic, Natas??a; Salisbury, Sonia R.; Hendy, Geoffrey N. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 43 KB 👁 1 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

A novel mutation (E767K) in the second e

A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia

✍ Ayşin Uçkun-Kitapçi; Louis E. Underwood; Jihui Zhang; Billie Moats-Staats 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB 👁 1 views

Cole DEC, Janicic N, Salisbury SR, Hendy

Cole DEC, Janicic N, Salisbury SR, Hendy GN (1997): Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene. Am J Med Genet 71:202-210.

✍ Hassed, Susan 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 1 views