Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification

Autor:	Richard Caswell, Adam W.M. Mitchell, Puja K. Mehta, Martina M Owens, Tonia L. Vincent, Carolyn Tysoe
Jazyk:	angličtina
Rok vydání:	2012
Předmět:	Spinal ligament ossification Spinal ligaments Ossification business.industry Heterozygote advantage Anatomy Hypophosphataemic rickets Compound heterozygosity Rheumatology Mutation (genetic algorithm) medicine Pharmacology (medical) medicine.symptom business
Zdroj:	Rheumatology (Oxford, England). 51(10)
ISSN:	1462-0332 1462-0324
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9937326263bfc5fc07bf84689cf7e59 http://ora.ox.ac.uk/objects/uuid:fbf7f7f9-cbf4-4c26-85e6-b064af35b2bc Zobrazit plný text záznamu