✦ LIBER ✦

A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia

✍ Scribed by H. Hirai; S. Nakajima; A. Miyauchi; K. Nishimura; N. Shimizu; M. Shima; T. Michigami; K. Ozono; S. Okada

Book ID: 106252744
Publisher: Nature Publishing Group
Year: 2001
Tongue: English
Weight: 130 KB
Volume: 46
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380170124

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

A novel Cys-214-Ser mutation in the peri

A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa

✍ Masamichi Saga; Yukihiko Mashima; Kiyoshi Akeo; Yoshihisa Oguchi; Jun Kudoh; Nob 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 452 KB

Autosomal Dominant Hypocalcemia Caused b

Autosomal Dominant Hypocalcemia Caused by a Novel Mutation in the Loop 2 Region of the Human Calcium Receptor Extracellular Domain

✍ Jianxin Hu; Stefano Mora; Giacomo Colussi; Maria Carla Proverbio; Kendra A. Jone 📂 Article 📅 2002 🏛 American Society for Bone and Mineral Research 🌐 English ⚖ 467 KB

Novel SPG6 mutation p.A100T in a Japanes

Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

✍ Satoshi Kaneko; Toshitaka Kawarai; Edwin Yip; Shabnam Salehi-Rad; Christine Sato 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB

## Abstract We describe a Japanese family in which inheritance of a novel mutation p.A100T in __SPG6__ resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of __SPG6__.

Activating mutations in the calcium-sens

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia – a German survey

✍ Friedhelm Raue; Josef Pichl; Helmuth-G. Dörr; Dirk Schnabel; Peter Heidemann; Ge 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB

W179R: A novel missense mutation in the

W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

✍ Corinne Bareil; Valérie Delague; Bernard Arnaud; Jacques Demaille; Christian Ham 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views