✦ LIBER ✦

Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping

✍ Scribed by N. S. Hawa; F. J. Cockerill; S. Vadher; M. Hewison; A. R. Rut; J. W. Pike; J. L. H. O'Riordan; S. M. Farrow

Book ID: 114720338
Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 813 KB
Volume: 45
Category: Article
ISSN: 0300-0664
DOI: 10.1111/j.1365-2265.1996.tb02064.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in the VDR gene in here

A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets

✍ K. Arita; A. Nanda; V. Wessagowit; M. Akiyama; Q.A. Alsaleh; J.A. McGrath 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 236 KB

Hereditary vitamin D–resistant rickets (

Hereditary vitamin D–resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor

✍ Peter J Malloy; Yulin Zhou; Jining Wang; Olaf Hiort; David Feldman 📂 Article 📅 2011 🏛 American Society for Bone and Mineral Research 🌐 English ⚖ 408 KB

Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disease caused by mutations in the vitamin D receptor (VDR). Patients exhibit severe rickets and hypocalcemia. Heterozygous parents and siblings appear normal and exhibit no symptoms of the disease. We analyzed the VDR gene

Hereditary 1,25-Dihydroxyvitamin D-Resis

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene

✍ D.N. LeVine; Y. Zhou; R.J. Ghiloni; E.L. Fields; A.J. Birkenheuer; J.L. Gookin; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 609 KB

Hereditary vitamin D resistant rickets:

Hereditary vitamin D resistant rickets: Identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy

✍ Nina S. Ma; Peter J. Malloy; Pisit Pitukcheewanont; Daina Dreimane; Mitchell E. 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 467 KB

A Novel Inborn Error in the Ligand-Bindi

A Novel Inborn Error in the Ligand-Binding Domain of the Vitamin D Receptor Causes Hereditary Vitamin D-Resistant Rickets

✍ Peter J. Malloy; Wenjing Zhu; Xiao-Yan Zhao; Gregory B. Pehling; David Feldman 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 263 KB

A novel nonsense mutation in the ligand

A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

✍ Peter J Malloy; Wenjing Zhu; Roger Bouillon; David Feldman 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 258 KB