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3 years ago

TM10-S2-2 Marianne Stef.pdf

TM10-S2-2 Marianne Stef.pdf

MUTATIONAL

MUTATIONAL PATHOGENICITYASSESSMENT• Bioinformatical analysis‣ Amino-acid conservation‣ Nucleotide conservation‣ Physico-chemical distance between AA‣ Confirmation with 3 softwares (Polyphen/SIFT/Align GVGD)‣ Splicing prediction (3 softwares)• Familial studies‣ Co segregation mutation and FH• Protein modeling (in collaboration with Zaragoza Laboratory)‣ Modeling of AA change in binding domain• Promotor mutations (in collaboration with Zaragoza Laboratory)‣ Electrophoretic mobility shift assay• Patients’ receptor activity‣Real-time PCR, Western blot and LDLR activity assay in cultured lymphocytesy• Daily update of specific literature

REPORTSPathogenecity clues

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