Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 2
Results: 17
Mutations of tropomyosin 3 ( TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 176, doi. 10.1002/humu.21157
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- Publication type:
- Article
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 136, doi. 10.1002/humu.21160
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- Article
The most frequent DCLRE1C ( ARTEMIS) mutations are based on homologous recombination events.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 197, doi. 10.1002/humu.21168
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- Article
Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. E1141, doi. 10.1002/humu.21181
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- Article
Exciton Primer-mediated SNP detection in SmartAmp2 reactions.
- Published in:
- 2010
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- Publication type:
- Other
A thorough assessment of benign genetic variability in GRN and MAPT.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. E1126, doi. 10.1002/humu.21152
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- Publication type:
- Article
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 143, doi. 10.1002/humu.21151
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- Publication type:
- Article
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
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- Human Mutation, 2010, v. 31, n. 2, p. E1163, doi. 10.1002/humu.21184
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- Article
SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.
- Published in:
- 2010
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- Publication type:
- Other
XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 167, doi. 10.1002/humu.21166
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- Publication type:
- Article
Alu-repeat-induced deletions within the NCF2 gene causing p67- phox-deficient chronic granulomatous disease (CGD).
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- Human Mutation, 2010, v. 31, n. 2, p. 151, doi. 10.1002/humu.21156
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- Publication type:
- Article
Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel.
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- Human Mutation, 2010, v. 31, n. 2, p. 184, doi. 10.1002/humu.21159
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- Publication type:
- Article
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in 'Brain-Lung-Thyroid Syndrome'.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. E1146, doi. 10.1002/humu.21183
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- Publication type:
- Article
Mutation update for the CSB/ ERCC6 and CSA/ ERCC8 genes involved in Cockayne syndrome.
- Published in:
- 2010
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- Publication type:
- Other
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
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- Human Mutation, 2010, v. 31, n. 2, p. 191, doi. 10.1002/humu.21165
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- Article
Point of care mutation detection.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. v, doi. 10.1002/humu.21198
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- Publication type:
- Article
MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 159, doi. 10.1002/humu.21158
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- Publication type:
- Article