✦ LIBER ✦

P64 Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations

✍ Scribed by G. Davidson; S.M. Murphy; J.M. Polke; M.B. Davis; M. Reilly; H. Houlden; collaborators of the MRC Centre for Neuromuscular Diseases

Book ID: 117670228
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 48 KB
Volume: 20
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(10)70079-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genes for hereditary sensory and autonom

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

✍ Rotthier, A.; Baets, J.; Vriendt, E. D.; Jacobs, A.; Auer-Grumbach, M.; Levy, N. 📂 Article 📅 2009 🏛 Oxford University Press 🌐 English ⚖ 383 KB

Frequency of mutations in the genes asso

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

✍ Davidson, G. L.; Murphy, S. M.; Polke, J. M.; Laura, M.; Salih, M. A. M.; Munton 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 262 KB

Novel mutations in ENG and ACVRL1 identi

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

✍ Aaron D. Bossler; Jennifer Richards; Cicily George; Lynn Godmilow; Arupa Ganguly 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 293 KB

## Communicated by Mark Paalman Hereditary hemorrhagic telangiectasia (HHT; Osler-Weber-Rendu disease) is an autosomal dominant disease characterized by arteriovenous malformations ranging from cutaneous and mucous membrane telangiectasias to more severe pulmonary, gastrointestinal, and cerebral ar