Pub. Date : 2012 Nov
PMID : 23045564
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Because we were unable to safely extubate the infant, a diagnosis of congenital central hypoventilation syndrome (CCHS) was considered and confirmed by molecular analysis of the PHOX2B gene, revealing a heterozygous polyalanine repeat-expansion mutation containing 27 repeats (normal gene contains 20 repeats). | polyalanine | paired like homeobox 2B | Homo sapiens |