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関連文献

“Subcellular localization of fukutin and fukutin-related protein in muscle cells.”. J. Biochem. 135 (6):  709–12. (2004). doi:10.1093/jb/mvh086. PMID 15213246.
“Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.”. Neuromuscul. Disord. 19 (5):  352–6. (2009). doi:10.1016/j.nmd.2009.03.001. PMC 2698593. PMID 19342235. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2698593/.
“Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.”. Prenat. Diagn. 29 (6):  560–9. (2009). doi:10.1002/pd.2238. PMC 2735827. PMID 19266496. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735827/.
“Golgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?”. Traffic 8 (3):  184–94. (2007). doi:10.1111/j.1600-0854.2006.00523.x. PMID 17319799.
Toda T (1999). “[Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy]”. Seikagaku 71 (1):  55–61. PMID 10067123.
“The Fukuyama congenital muscular dystrophy story.”. Neuromuscul. Disord. 10 (3):  153–9. (2000). doi:10.1016/S0960-8966(99)00109-1. PMID 10734260.
“Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.”. Genome Res. 16 (1):  55–65. (2006). doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356129/.
“Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.”. Clin. Genet. 73 (2):  139–45. (2008). doi:10.1111/j.1399-0004.2007.00936.x. PMID 18177472.
“Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.”. Neuromuscul. Disord. 19 (3):  182–8. (2009). doi:10.1016/j.nmd.2008.12.005. PMID 19179078.
“Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan.”. Neurosci. Res. 56 (4):  391–9. (2006). doi:10.1016/j.neures.2006.08.009. PMID 17005282.
Yoshioka M (2009). “Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.”. Brain Dev. 31 (6):  419–22. doi:10.1016/j.braindev.2008.07.012. PMID 18834683.
“Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.”. Hum. Mutat. 29 (11):  E231–41. (2008). doi:10.1002/humu.20844. PMC 2577713. PMID 18752264. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577713/.
“Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.”. Nat. Genet. 41 (6):  HASH(0x118f3f0). (2009). doi:10.1038/ng.386. PMC 2942986. PMID 19448620. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2942986/.
“Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.”. Ann. Neurol. 60 (5):  603–10. (2006). doi:10.1002/ana.21006. PMID 17044012.
“Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.”. Brain 130 (Pt 10):  2725–35. (2007). doi:10.1093/brain/awm212. PMID 17878207.
“Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.”. Muscle Nerve 39 (6):  845–8. (2009). doi:10.1002/mus.21271. PMID 19396839.
“The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”. Genome Res. 14 (10B):  2121–7. (2004). doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928/.
“Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.”. Neurology 72 (21):  1802–9. (2009). doi:10.1212/01.wnl.0000346518.68110.60. PMID 19299310.
“Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.”. Circ. J. 73 (1):  158–61. (2009). doi:10.1253/circj.CJ-08-0722. PMID 19015585.