Pub. Date : 2007
PMID : 17192724
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Direct sequencing of DNA in the male patient revealed that he was compound heterozygote for two mutations in the AQP2 gene: a thymine-to-adenine transversion at position 450 (c.450T>A) in exon 2 and a guanine-to-thymine at nucleotide position 643 (c.643G>T) in exon 4. | Adenine | aquaporin 2 | Homo sapiens |