EFHC1

EFHC1

EF-hand domain (C-terminal) containing 1, also known as EFHC1, is a human gene.cite web | title = Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114327| accessdate = ]

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References

Further reading

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*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Liu AW, Delgado-Escueta AV, Gee MN, "et al." |title=Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations. |journal=Am. J. Med. Genet. |volume=63 |issue= 3 |pages= 438–46 |year= 1996 |pmid= 8737649 |doi= 10.1002/(SICI)1096-8628(19960614)63:3<438::AID-AJMG5>3.0.CO;2-N |doilabel=10.1002/(SICI)1096-8628(19960614)63:3438::AID-AJMG53.0.CO;2-N
*cite journal | author=Sander T, Bockenkamp B, Hildmann T, "et al." |title=Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6. |journal=Neurology |volume=49 |issue= 3 |pages= 842–7 |year= 1997 |pmid= 9305351 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Mungall AJ, Palmer SA, Sims SK, "et al." |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Suzuki T, Delgado-Escueta AV, Aguan K, "et al." |title=Mutations in EFHC1 cause juvenile myoclonic epilepsy. |journal=Nat. Genet. |volume=36 |issue= 8 |pages= 842–9 |year= 2004 |pmid= 15258581 |doi= 10.1038/ng1393
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Norberg A, Forsgren L, Holmberg D, Holmberg M |title=Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG. |journal=Neurosci. Lett. |volume=396 |issue= 2 |pages= 137–42 |year= 2006 |pmid= 16378686 |doi= 10.1016/j.neulet.2005.11.039
*cite journal | author=de Nijs L, Lakaye B, Coumans B, "et al." |title=EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. |journal=Exp. Cell Res. |volume=312 |issue= 15 |pages= 2872–9 |year= 2006 |pmid= 16824517 |doi= 10.1016/j.yexcr.2006.05.011
*cite journal | author=Pinto D, Louwaars S, Westland B, "et al." |title=Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families. |journal=Epilepsia |volume=47 |issue= 10 |pages= 1743–6 |year= 2006 |pmid= 17054699 |doi= 10.1111/j.1528-1167.2006.00676.x
*cite journal | author=Stogmann E, Lichtner P, Baumgartner C, "et al." |title=Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. |journal=Neurology |volume=67 |issue= 11 |pages= 2029–31 |year= 2007 |pmid= 17159113 |doi= 10.1212/01.wnl.0000250254.67042.1b
*cite journal | author=Annesi F, Gambardella A, Michelucci R, "et al." |title=Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. |journal=Epilepsia |volume=48 |issue= 9 |pages= 1686–90 |year= 2007 |pmid= 17634063 |doi= 10.1111/j.1528-1167.2007.01173.x

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