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Pubblicazioni
HUMAN MUTATION
Rivista
Codice:
E078695
ISSN:
1059-7794
Dati Generali
Dati Generali
Pubblicazioni (12)
Pulisci
Ordina Pubblicazioni:
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310 basepair APC deletion with duplication of breakpoint (4394ins15del310) in an Italian polyposis patient
Articolo
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.
Articolo
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum(PXE).
Articolo
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides
Articolo
Characterization of copy number variants in hereditary cancer patients through NGS shows a distinctive PALB2 contribution to the diagnostic yield
Articolo
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).
Articolo
Different molecular mechanisms underlie genomic deletions in the MLH1 gene
Articolo
Jagged-1 mutation analysis in Italian Alagille syndrome patients
Articolo
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Articolo
Molecular characterization of a T(2;6) balaced translocation associated with complex phenotype and leading to the truncation of the TCBA1 gene.
Articolo
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes
Articolo
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
Articolo
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