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World Journal of Gastroenterology, ISSN 1007-9327, 2006, Volume 12, Issue 5, p. 809
Journal Article
Hereditary cancer in clinical practice, ISSN 1731-2302, 08/2010, Volume 8, Issue 1, pp. 7 - 7
Background: An unclassified variant (UV) in exon 1 of the MLH1 gene, c.112A > C, p.Asn38His, was found in six families who meet diagnostic criteria for Lynch... 
VARIANTS | DATABASE | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | MUIR-TORRE-SYNDROME | MICROSATELLITE INSTABILITY | MISMATCH REPAIR GENES | FUNCTIONAL-ANALYSIS | REVISED BETHESDA GUIDELINES | TUMOR CHARACTERISTICS | CLINICAL-SIGNIFICANCE | Complications and side effects | Genetic aspects | Genetic engineering | Analysis | Colorectal cancer
Journal Article
Hereditary cancer in clinical practice, ISSN 1731-2302, 03/2008, Volume 6, Issue 1, pp. 15 - 21
Journal Article
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 08/1999, Volume 27, Issue 15, p. e9
  Denaturing gradient gel electrophoresis (DGGE) has proven to be a powerful pre-screening method for the detection of DNA variants. If such variants occur,... 
Journal Article
Journal Article
HUMAN GENETICS, ISSN 0340-6717, 03/1996, Volume 97, Issue 3, pp. 362 - 364
Neuroblastoma occasionally occurs in diseases associated with abnormal neurocrest differentiation, e.g. Hirschsprung disease. Expression studies in developing... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2000, Volume 8, Issue 2, pp. 79 - 86
To facilitate the detection of carriers of a hemizygous survival motor neuron (SMN) exon7 deletion we have modified the quantitative SMN exon7 assay described... 
Journal Article
Journal Article
Nature, ISSN 0028-0836, 01/1994, Volume 367, Issue 6461, pp. 375 - 376
A mutation in the RET proto-oncogene has been identified in patients with the B form of multiple endocrine neoplasia type 2 (MEN 2B). MEN 2 consists of 3... 
Journal Article
Human genetics, ISSN 0340-6717, 1996, Volume 97, Issue 3, pp. 362 - 364
Journal Article
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