Table des matières
Genetics and diagnostics: possibilities and limitations
Interpretation of molecular genetic test results
Diapositive PPT
Diapositive PPT
Consequence of gene mutations
Consequence of gene mutations
proteinomics
Diapositive PPT
ATP7B (Wilson´s disease gene-product)
Diapositive PPT
Methods
Genotype - phenotype study in WD patients - country of origin
phenotypic classification
Diagnosis of Wilson´s disease
Kayser-Fleischer rings at diagnosis of Wilson disease
Diapositive PPT
Hepatic copper content for diagnosis of Wilson disease
Liver copper as diagnostic test for Wilson disease
mutation detection strategy
mutations detected
H1069Q homozygotes and compound heterozygotes
H1069Q mutation in Wilson disease
other homozygotes
Distribution of WD mutations according to the clinical presentation
Distribution of WD mutations according to the clinical presentation
Clinical presentation in pts. with common mutations
Distribution of WD mutations according to the age at onset of symptoms
Distribution of WD mutations according to the age at onset of symptoms
Distribution of WD mutations according to the age at onset of neurologic symptoms
Distribution of WD mutations according to the age at onset of neurologic symptoms
Distribution of WD mutations according to the age at onset of hepatic symptoms
Diapositive PPT
Summary
Mutation analysis for diagnosis of Wilson disease
Mutation analysis for diagnosis of WD
Diapositive PPT
Factors modulating copper toxicity in Wilson disease
Summary
|