Development of a Highly Sensitive Immuno-PCR Assay for the Measurement of α-Galactosidase A Protein Levels in Serum and Plasma

Fabry disease is an X-linked genetic disorder caused by defects in the α-galactosidase A (GLA) gene, and heterogeneous mutations lead to quantitative and/or qualitative defects in GLA protein in male patients with Fabry disease. Random X-chromosomal inactivation modifies the clinical and biochemical...

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Hlavní autoři: Nakano, Sachie, Morizane, Yoshihito, Makisaka, Noriko, Suzuki, Toshihiro, Togawa, Tadayasu, Tsukimura, Takahiro, Kawashima, Ikuo, Sakuraba, Hitoshi, Shibasaki, Futoshi
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3827252/
https://ncbi.nlm.nih.gov/pubmed/24236025
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0078588
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