Use of mouse models to establish genotype-phenotype correlations in Williams-Beuren syndrome

Use of mouse models to establish genotype-phenotype correlations in Williams-Beuren syndrome

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by the common deletion of 26-28 contiguous genes in the 7q11.23 region, which poses difficulties to the establishment of genotype-phenotype correlations. The use of mouse models would broader the knowledge of the syndrome, the ro...

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Bibliographic Details
Main Author: Segura Puimedon, Maria, 1985-
Other Authors: Pérez Jurado, Luis Alberto
Format: Doctoral Thesis
Language:English
Published: Universitat Pompeu Fabra 2012
Subjects:
Williams-Beuren syndrome
Mouse models
Transcriptome profile
Pathway enrichment
Binding motif
Cardiovascular phenotype
General transcription factor II-I (Gtf2i)
Neutrophil cytosolic factor 1 (Ncf1)
Síndrome de Williams-Beuren
Models de ratolí
Perfil transcriptòmic
Enriquiment de vies moleculars
Motiu d’unió
Fenotip cardiovascular
575
Online Access:http://hdl.handle.net/10803/101408

Internet

http://hdl.handle.net/10803/101408

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