Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype

Keyphrases

• Novel mutation 100%
• β-Galactosidase (β-Gal) 100%
• Fabry Disease 100%
• Classical Phenotype 100%
• Prenatal Diagnosis 33%
• Gene Rearrangement 33%
• New mutation 33%
• Coding Region 33%
• Lysosomal Storage Disease 33%
• Missense 33%
• Nonsense 33%
• Disease Phenotype 33%
• Male Carriers 33%
• Genomic DNA (gDNA) 33%
• PCR Amplification 33%
• Single-base Substitution 33%
• Carrier Detection 33%
• Obligate Carrier 33%
• Classic Phenotype 33%
• Fabry 33%
• X-linked Disorder 33%
• Molecular Lesions 33%

Biochemistry, Genetics and Molecular Biology

• Fabry Disease 100%
• Galactosidase 100%
• Galactose 66%
• Gene Rearrangement 33%
• Missense 33%
• Coding Region 33%
• Nucleic Acid Base Substitution 33%
• Lysosomal Storage Disease 33%
• Obligate Carrier 33%
• Molecular Lesion 33%
• Automated Sequencing 33%
• Genomics 33%
• Haplotyping 33%