|
1
|
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.
|
Eur J Hum Genet
|
2013
|
1.27
|
|
2
|
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
|
J Pediatr Gastroenterol Nutr
|
2008
|
1.08
|
|
3
|
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.
|
J Gastroenterol
|
2006
|
0.88
|
|
4
|
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.
|
Genet Test Mol Biomarkers
|
2009
|
0.80
|
|
5
|
A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia.
|
Dig Dis Sci
|
2006
|
0.79
|
|
6
|
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.
|
Mol Cell Probes
|
2011
|
0.79
|
|
7
|
"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.
|
Mov Disord
|
2009
|
0.78
|
|
8
|
Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.
|
Dig Dis Sci
|
2007
|
0.78
|
|
9
|
Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
|
Dig Liver Dis
|
2012
|
0.77
|
|
10
|
Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.
|
Mol Cell Probes
|
2010
|
0.76
|
|
11
|
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.
|
Mol Cell Probes
|
2011
|
0.75
|