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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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: Tamura, Mayuko, Isojima, Tsuyoshi, Kawashima, Minae, Yoshida, Hideki, Yamamoto, Keiko, Kitaoka, Taichi, Namba, Noriyuki, Oka, Akira, Ozono, Keiichi, Tokunaga, Katsushi, Kitanaka, Sachiko
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2015
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4496068/
https://ncbi.nlm.nih.gov/pubmed/26153892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0131157
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