Pub. Date : 2010 Jan
PMID : 19881470
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion. | polyalanine | paired like homeobox 2B | Homo sapiens |
| 2 | With congenital central hypoventilation syndrome (CCHS), most patients have a de novo 5-13 polyalanine expansion mutation in PHOX2B. | polyalanine | paired like homeobox 2B | Homo sapiens |
| 3 | In this study, we analyzed the relationship between haplotypes and de novo polyalanine expansion in PHOX2B and found that haplotypes carrying rs17884724:A>C were detected frequently in 7-alanine expanded (27-alanine) mutant alleles, which are the most prevalent mutations in CCHS. | polyalanine | paired like homeobox 2B | Homo sapiens |