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Article

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.

Journal of human genetics - 1 May 2018

Minamikawa Shogo, Nozu Kandai, Nozu Yoshimi, Yamamura Tomohiko, Taniguchi-Ikeda Mariko, Nakanishi Keita, Fujimura Junya, Horinouchi Tomoko, Shima Yuko, Nakanishi Koichi, Hattori Masuji, Kanda Kyoko, Tanaka Ryojiro, Morisada Naoya, Nagano China, Sakakibara Nana, Nagase Hiroaki, Morioka Ichiro, Kaito Hiroshi, Iijima Kazumoto

Abstract excerpt

The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the XCI ratio of the androgen receptor gene at the genomic DNA level and does not reflect the ratio of either targeted...

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Identifiers

PMID: 29459630
DOI: 10.1038/s10038-018-0415-1

Genes

CLCN5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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