Views
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

S2
TeVii S480 with 2 x DVB-S2 - TELE-satellite International Magazine
S2
S2 (2) Get into shape with physiotherapy
Download brochure - Harpiste Marianne Smit
CV & PORTFOLIO Marianne Langberg - mariannelangberg.dk
s2 Program_Evaluation ...
Month / Day Date Events Girls S1 S2 S3 U16 August Sunday 2 ...
Bevan , Marianne. Hand in hand together.pdf - DevNet
TeVii S480 with 2 x DVB-S2 - ACME
eternus dx80 s2
SEECODE WHEEL S2 - mobiset
Marianne y Fyberspates - Lantern Moon
Structuralism & Post-Structuralism Presentation - Marianne DeMarco ...
PointView presentation for Grid-Interop 2012 by Marianne Swanson
Do the Right Thing - Marianne DeMarco Portfolio