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Research Outputs
HUMAN MUTATION
Journal
Identifier:
E078695
ISSN:
1059-7794
Overview
Overview
Research Outputs (12)
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310 basepair APC deletion with duplication of breakpoint (4394ins15del310) in an Italian polyposis patient
Academic Article
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
Academic Article
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum(PXE).
Academic Article
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides
Academic Article
Characterization of copy number variants in hereditary cancer patients through NGS shows a distinctive PALB2 contribution to the diagnostic yield
Academic Article
Comparison of three methods for single nucleotide polymorphism typing for DNA bank studies: sequence-specific oligonucleotide probe hybridisation, TaqMan liquid phase hybridisation, and microplate array diagonal gel electrophoresis (MADGE).
Academic Article
Different molecular mechanisms underlie genomic deletions in the MLH1 gene
Academic Article
Jagged-1 mutation analysis in Italian Alagille syndrome patients
Academic Article
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Academic Article
Molecular characterization of a T(2;6) balaced translocation associated with complex phenotype and leading to the truncation of the TCBA1 gene.
Academic Article
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes
Academic Article
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals
Academic Article
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