A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1897-4287
- 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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A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome ; volume:8 ; number:1 ; day:12 ; month:8 ; year:2010 ; pages:1-9 ; date:12.2010
Hereditary cancer in clinical practice ; 8, Heft 1 (12.8.2010), 1-9, 12.2010
- Creator
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van Riel, Els
- Contributor
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Ausems, Margreet GEM
Hogervorst, Frans BL
Kluijt, Irma
van Gijn, Marielle E.
van Echtelt, Jeanne
Scheidel-Jacobse, Karen
Hennekam, Eric FAM
Stulp, Rein P.
Vos, Yvonne J.
Offerhaus, G Johan A.
Menko, Fred H.
Gille, Johan JP
SpringerLink (Online service)
- DOI
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10.1186/1897-4287-8-7
- URN
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urn:nbn:de:1111-201607101896
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:55 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
- van Riel, Els
- Ausems, Margreet GEM
- Hogervorst, Frans BL
- Kluijt, Irma
- van Gijn, Marielle E.
- van Echtelt, Jeanne
- Scheidel-Jacobse, Karen
- Hennekam, Eric FAM
- Stulp, Rein P.
- Vos, Yvonne J.
- Offerhaus, G Johan A.
- Menko, Fred H.
- Gille, Johan JP
- SpringerLink (Online service)
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Untersuchungen zu Abbaumechanismen von Mismatch-Reparatur-Enzymen : Inhibition des MLH1-Abbaus und Stabilisierung von MLH1-Missense-Varianten im humanen Zellsystem
A Chinese family affected by lynch syndrome caused by MLH1 mutation
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review
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
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MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years
A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
Funktionelle Analyse des MLH1·ITGA9-Fusionsproteins einer Lynch-Syndrom-Familie
A rare large duplication of MLH1 identified in Lynch syndrome
Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome
Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome
Untersuchungen zu Abbaumechanismen von Mismatch-Reparatur-Enzymen : Inhibition des MLH1-Abbaus und Stabilisierung von MLH1-Missense-Varianten im humanen Zellsystem
A Chinese family affected by lynch syndrome caused by MLH1 mutation
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review
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
Erblicher Dickdarmkrebs ohne Polyposis (HNPCC oder Lynch-Syndrom) : molekulargenetische Untersuchungen auf Mutationen im hMLH1-Gen
MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years
A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
Funktionelle Analyse des MLH1·ITGA9-Fusionsproteins einer Lynch-Syndrom-Familie
A rare large duplication of MLH1 identified in Lynch syndrome
Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome
Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome