Biology:FRMD7
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
FERM domain-containing protein 7 is a protein that in humans is encoded by the FRMD7 gene.[1][2][3]
References
- ↑ "Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus". Am J Med Genet 39 (2): 167–9. Aug 1991. doi:10.1002/ajmg.1320390210. PMID 2063919.
- ↑ "Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus (NYS1)". Nat Genet 38 (11): 1242–4. Oct 2006. doi:10.1038/ng1893. PMID 17013395.
- ↑ "Entrez Gene: FRMD7 FERM domain containing 7". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=90167.
External links
Further reading
- Cabot A; Rozet JM; Gerber S et al. (2000). "A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3". Am. J. Hum. Genet. 64 (4): 1141–6. doi:10.1086/302324. PMID 10090899.
- Strausberg RL; Feingold EA; Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- Ota T; Suzuki Y; Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Ross MT; Grafham DV; Coffey AJ et al. (2005). "The DNA sequence of the human X chromosome". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651. Bibcode: 2005Natur.434..325R.
- Guo X; Li S; Jia X et al. (2006). "Linkage analysis of two families with X-linked recessive congenital motor nystagmus". J. Hum. Genet. 51 (1): 76–80. doi:10.1007/s10038-005-0316-y. PMID 16240070.
- Schorderet DF; Tiab L; Gaillard MC et al. (2007). "Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online". Hum. Mutat. 28 (5): 525. doi:10.1002/humu.9492. PMID 17397053.
- "FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus". Mol. Vis. 13: 1375–8. 2007. PMID 17768376.
- Self JE; Shawkat F; Malpas CT et al. (2007). "Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus". Arch. Ophthalmol. 125 (9): 1255–63. doi:10.1001/archopht.125.9.1255. PMID 17846367.
- Zhang B; Liu Z; Zhao G et al. (2007). "Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus". Mol. Vis. 13: 1674–9. PMID 17893669.
- Kaplan Y; Vargel I; Kansu T et al. (2008). "Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene". The British Journal of Ophthalmology 92 (1): 135–41. doi:10.1136/bjo.2007.128157. PMID 17962394. http://repository.bilkent.edu.tr/bitstream/11693/23235/1/Skewed%20X%20inactivation%20in%20an%20X%20linked%20nystagmus%20family%20resulted%20from%20a%20novel%2c%20p.R229G%2c%20missense%20mutation%20in%20the%20FRMD7%20gene.pdf.
- "X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7". Mol. Vis. 13: 2233–41. 2008. PMID 18087240.
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