EC Number |
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3.5.1.12 | cDNA from a liver library encoding biotinidase cloned and sequenced |
3.5.1.12 | DNA and amino acid sequence determination and analysis, genotyping in patients from Austria, India, Morocco, and Spain with enzyme deficiency |
3.5.1.12 | enzyme expression and immunohistochemic analysis in 169 different samples of thyroid cancer, overview |
3.5.1.12 | genotyping of biotinidase deficiency algerian patient genes, PCR, mutation analysis reveals three mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3 |
3.5.1.12 | genotyping of biotinidase deficiency american patient genes, quantitative real-time reverse-transcription PCR, most mutations in exon 4, overview |
3.5.1.12 | genotyping of biotinidase deficiency greek patient genes, real-time PCR |
3.5.1.12 | genotyping of Hungarian population, the most common biotinidase variant alleles are higher in the Hungarian population than in other Caucasian populations |
3.5.1.12 | PCR amplification mutational hotspot in biotinidase gene identified, causes biotinidase deficiency, located on chromosome 3p25 |
3.5.1.12 | the variants Leu40Pro, Cys160Tyr, Asp222Asn, Asp444His, Leu446Pro, Asn489Ser and the wild type gene are expressed in HEK 293 cells |