Pub. Date : 2002 Oct
PMID : 12189593
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Sequence analysis of the SC5D gene in the patient"s DNA, showing the presence of two missense mutations (R29Q and G211D), confirmed that the patient is affected by a novel defect of cholesterol biosynthesis. | Cholesterol | sterol-C5-desaturase | Homo sapiens |