Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array

CONTEXT: Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by biallelic mutations in the vitamin D receptor (VDR) gene. No patients have been reported with uniparental disomy (UPD). OBJECTIVE: Using genome-wide single nucleotide polymorphism (SNP)...

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Detalles Bibliográficos
Autores principales: Tamura, Mayuko, Isojima, Tsuyoshi, Kawashima, Minae, Yoshida, Hideki, Yamamoto, Keiko, Kitaoka, Taichi, Namba, Noriyuki, Oka, Akira, Ozono, Keiichi, Tokunaga, Katsushi, Kitanaka, Sachiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496068/
https://www.ncbi.nlm.nih.gov/pubmed/26153892
http://dx.doi.org/10.1371/journal.pone.0131157

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