GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

Medicine, Genetics, Molecular Genetics +14

Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1

Shoichiro Nakao, Chihaya Kodama, Toshihiro Takenaka et al. · Kidney International · 2003 · 440 citations

Medicine, Molecular Genetics, Nephrology +12

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

Hsiang‐Yu Lin, Kah-Wai Chong, Hsiao-Chi Yu et al. · Circulation Cardiovascular Genetics · 2009 · 268 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype

Shoichiro Nakao, Reiko Minamikawa‐Tachino, Robert J. Desnick et al. · The American Journal of Human Genetics · 2002 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutant α-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

Hui‐Hwa Chang, Kunito Kawasaki, Kayo Yasuda et al. · Biochemical Journal · 2007 · 147 citations · Full text

Life Sciences, Biochemistry, Genetics +17