In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2164
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects ; volume:7 ; number:1 ; day:22 ; month:9 ; year:2006 ; pages:1-12 ; date:12.2006
BMC genomics ; 7, Heft 1 (22.9.2006), 1-12, 12.2006
- Creator
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Lastella, Patrizia
- Contributor
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Surdo, Nicoletta Concetta
Resta, Nicoletta
Guanti, Ginevra
Stella, Alessandro
SpringerLink (Online service)
- DOI
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10.1186/1471-2164-7-243
- URN
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urn:nbn:de:1111-2016072725496
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 11:01 AM CEST
Data provider
This object is provided by:
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Lastella, Patrizia
- Surdo, Nicoletta Concetta
- Resta, Nicoletta
- Guanti, Ginevra
- Stella, Alessandro
- SpringerLink (Online service)
Other Objects (12)
Discovery of tissue-specific exons using comprehensive human exon microarrays
Untersuchungen zu Abbaumechanismen von Mismatch-Reparatur-Enzymen : Inhibition des MLH1-Abbaus und Stabilisierung von MLH1-Missense-Varianten im humanen Zellsystem
MLH1 Exon 12 Gene Deletion Leading to Lynch Syndrome: A Case Report
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2genes in yeast
A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asian but not among Europe : = Eine neue missense Mutation im DNA-Reparaturgen hMLH1 bei Ost-Asiaten, jedoch nicht bei Europäern
Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review
Predicting mutually exclusive spliced exons based on exon length, splice site and reading frame conservation, and exon sequence homology
POEM, A 3-dimensional exon taxonomy and patterns in untranslated exons
Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays
Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease
Discovery of tissue-specific exons using comprehensive human exon microarrays
Untersuchungen zu Abbaumechanismen von Mismatch-Reparatur-Enzymen : Inhibition des MLH1-Abbaus und Stabilisierung von MLH1-Missense-Varianten im humanen Zellsystem
MLH1 Exon 12 Gene Deletion Leading to Lynch Syndrome: A Case Report
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2genes in yeast
A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asian but not among Europe : = Eine neue missense Mutation im DNA-Reparaturgen hMLH1 bei Ost-Asiaten, jedoch nicht bei Europäern
Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review
Predicting mutually exclusive spliced exons based on exon length, splice site and reading frame conservation, and exon sequence homology
POEM, A 3-dimensional exon taxonomy and patterns in untranslated exons
Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays
Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease
Discovery of tissue-specific exons using comprehensive human exon microarrays
Untersuchungen zu Abbaumechanismen von Mismatch-Reparatur-Enzymen : Inhibition des MLH1-Abbaus und Stabilisierung von MLH1-Missense-Varianten im humanen Zellsystem
MLH1 Exon 12 Gene Deletion Leading to Lynch Syndrome: A Case Report
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2genes in yeast
A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asian but not among Europe : = Eine neue missense Mutation im DNA-Reparaturgen hMLH1 bei Ost-Asiaten, jedoch nicht bei Europäern
Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review
Predicting mutually exclusive spliced exons based on exon length, splice site and reading frame conservation, and exon sequence homology
POEM, A 3-dimensional exon taxonomy and patterns in untranslated exons
Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays