Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets
- 15 May 2019
- journal article
- research article
- Published by Elsevier BV in Bone
- Vol. 125, 186-193
- https://doi.org/10.1016/j.bone.2019.05.017
Abstract
No abstract availableKeywords
Funding Information
- King Abdulaziz City for Science and Technology (11-BIO1434-20)
This publication has 41 references indexed in Scilit:
- Pick one, but be quick: 5′ splice sites and the problems of too many choicesGenes & Development, 2013
- Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation typeBMC Medical Genetics, 2011
- Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic VariabilityCalcified Tissue International, 2011
- Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic ricketsClinical Endocrinology, 2010
- Human Splicing Finder: an online bioinformatics tool to predict splicing signalsNucleic Acids Research, 2009
- Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic ricketsBone, 2008
- Human branch point consensus sequence is yUnAyNucleic Acids Research, 2008
- Global analysis of exon creation versus loss and the role of alternative splicing in 17 vertebrate genomesRNA, 2007
- Comprehensive splice-site analysis using comparative genomicsNucleic Acids Research, 2006
- Improved Splice Site Detection in GenieJournal of Computational Biology, 1997