GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:15215484
| Citation |
Schuelke, M, Wagner, KR, Stolz, LE, Hübner, C, Riebel, T, Kömen, W, Braun, T, Tobin, JF and Lee, SJ (2004) Myostatin mutation associated with gross muscle hypertrophy in a child. N. Engl. J. Med. 350:2682-8 |
|---|---|
| Abstract |
No abstract in PubMed |
| Links |
PubMed Online version:10.1056/NEJMoa040933 |
| Keywords |
DNA Mutational Analysis; Female; Humans; Hypertrophy/genetics; Infant, Newborn; Male; Muscle, Skeletal/pathology; Muscle, Skeletal/ultrasonography; Muscular Diseases/genetics; Mutation; Myostatin; Pedigree; Phenotype; RNA, Messenger/genetics; Reverse Transcriptase Polymerase Chain Reaction; Transforming Growth Factor beta/genetics |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0048632: negative regulation of skeletal muscle tissue growth |
ECO:0000315: mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
| GO:0048632: negative regulation of skeletal muscle tissue growth |
ECO:0000315: |
P |
Figure 2; comparison of wild-type versus mutant allele |
complete | ||||
See also
References
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