Pub. Date : 2014 Feb
PMID : 23460419
4 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | More than 90% of the patients are heterozygous for polyalanine repeat expansion mutations in the paired-like homeobox 2b (PHOX2B) gene. | polyalanine | paired like homeobox 2B | Homo sapiens |
| 2 | More than 90% of the patients are heterozygous for polyalanine repeat expansion mutations in the paired-like homeobox 2b (PHOX2B) gene. | polyalanine | paired like homeobox 2B | Homo sapiens |
| 3 | Heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene has rarely been reported. | polyalanine | paired like homeobox 2B | Homo sapiens |
| 4 | We report three consecutive generations harboring heterozygous 24-polyalanine repeats in the PHOX2B gene with manifestations ranging from apparently asymptomatic to alveolar hypoventilation and apnea requiring mechanical ventilation. | polyalanine | paired like homeobox 2B | Homo sapiens |