RecName: Full=Ribitol 5-phosphate transferase FKRP; AltName: Full=Fuku - Protein

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Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9. [J Neuromuscul Dis. 2024]
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.
Jensen SM, Friborg O, Mellgren SI, Müller KI, Bergvik S, Arntzen KA. J Neuromuscul Dis. 2024; 11(1):59-74.
Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). [J Neurol. 2024]
Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Jensen S, Abeler K, Friborg O, Rosner A, Olsborg C, Mellgren SI, Müller KI, Rosenberger AD, Vold ML, Arntzen KA. J Neurol. 2024 Jan; 271(1):274-288. Epub 2023 Sep 11.
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients. [J Neuromuscul Dis. 2023]
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G, Polavarapu K, Bardhan M, Nashi S, Vengalil S, Preethish-Kumar V, Valasani RK, Huddar A, Nishadham V, Nandeesh BN, et al. J Neuromuscul Dis. 2023; 10(4):615-626.

RefSeq genomic sequence
See the genomic reference sequence for the FKRP gene (NG_008898.2).
RefSeq protein isoforms
See 33 reference sequence protein isoforms for the FKRP gene.

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Q9H9S5 [Domain Mapping of Disease Mut...]
Q9H9S5
Domain Mapping of Disease Mutations
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reagents [ExactAntigen/Labome]
reagents
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Protein