RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease

Hirschsprung disease (HSCR) is a congenital aganglionosis of myenteric and submucosal plexuses in variable length of the intestine. This study investigated the influence and a possible modifying function of RET proto-oncogene's single nucleotide polymorphisms (SNPs) and haplotypes in the develo...

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Veröffentlicht in:	PloS one 2014-06, Vol.9 (6), p.e98957-e98957
Hauptverfasser:	Vaclavikova, Eliska, Dvorakova, Sarka, Skaba, Richard, Pos, Lucie, Sykorova, Vlasta, Halkova, Tereza, Vcelak, Josef, Bendlova, Bela
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Analysis Biology and Life Sciences Case-Control Studies Chromosomes Clustering Congenital diseases Czech Republic Endocrinology Exons Female Females Follow-Up Studies Gene expression Genetic Markers Genetics Genotype Genotyping Haplotypes Haplotypes - genetics Hirschsprung Disease - genetics Hirschsprung's disease Humans Intestine Kinases Male Males Medicine and Health Sciences Mutation Pathogenesis Patients Polymerase Chain Reaction Polymorphism, Single Nucleotide - genetics Population genetics Prognosis Prospective Studies Proto-Oncogene Proteins c-ret - genetics Pruning Ret protein Retrospective Studies Risk Sequence Analysis, DNA Single nucleotide polymorphisms Single-nucleotide polymorphism Statistical tests Thyroid cancer
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