Fukutin-related protein
fukutin related protein | |
---|---|
Identifiers | |
Symbol | FKRP |
Entrez | 79147 |
HUGO | 17997 |
OMIM | 606596 |
RefSeq | NM_024301 |
UniProt | Q9H9S5 |
Other data | |
Locus | Chr. 19 q13.3 |
Fukutin-related protein (FKRP) is a protein associated with congenital muscular dystrophy.[1]
See also
References
- ↑ Mercuri E, Topaloglu H, Brockington M, et al. (February 2006). "Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations". Arch. Neurol. 63 (2): 251–7. PMID 16476814. doi:10.1001/archneur.63.2.251.
External links
- GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
- LOVD mutation database: FKRP
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