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Rapid single-step detection of the inversion hotspot of mutation in hemophilia A by real-time PCR

✍ Scribed by F. VIDAL; J. F. SÁNCHEZ-GARCÍA; E. FARSSAC; L. RAMÍREZ; D. GALLARDO


Book ID
109149270
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
155 KB
Volume
3
Category
Article
ISSN
1538-7933

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## Abstract The UGT1A1 Taqman MGB probe single nucleotide polymorphism (SNP) genotyping assay was developed to detect nucleotide 211 of the UDP‐glucoronocyltransferase 1A1 (UGT1A1) gene. Defects in this enzyme interfere with process of conjugation of bilirubin and cause unconjugated hyperbilirubine