Mutation and polymorphism data for Hirschsprung disease (HSCR) varies among ethnic groups. Single nucleotide polymorphisms (SNP) of RET proto-oncogene (RET) were recently shown to be associated ...

Utilizing genome-wide association studies, the deCODE group has identified a single nucleotide polymorphism in the alpha-myosin heavy chain — MYH6 — that predisposes to sick sinus syndrome.

Polymorphisms in upstream activators, repressors or downstream effectors of p53 might individually modulate cancer risk or interact with polymorphisms or mutations in TP53.

The human immunodeficiency virus (HIV) can contain dozens of different mutations, called polymorphisms. In a recent study an international team of researchers found that one of those mutations ...

Human Genetics: Concepts and Application. ... Balanced polymorphism may explain why cystic fibrosis is so common- the anatomical defect that underlies CF protects against diarrheal illnesses, ...

Mutation causing protein misfolding remission discovered: Polymorphism prompts amyloidosis. ScienceDaily . Retrieved June 3, 2025 from www.sciencedaily.com / releases / 2010 / 05 / 100511123038.htm ...

Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: A HuGE review. American Journal of Epidemiology, 165(1), 1-13. Jamil, K. (2014).

p53 GENE MUTTION: Exons 5 and 6 of the p53 gene of five individuals were amplified and examined by Cleavase® Fragment Length Polymorphism (CFLP®) Analysis. The pattern marked "WT" is from an ...

Polymorphisms in upstream activators, repressors or downstream effectors of p53 might individually modulate cancer risk or interact with polymorphisms or mutations in TP53.