000			02855nam a22003495i 4500
999			_c76379 _d76379 _x1
001			76379
003			ES-MaUEC
005			20230207040222.0
007			cr nn 008mamaa
008			100301s2006 gw | s |||| 0|eng d
020			_a9783540344490
024	7		_a10.1007/978-3-540-34449-0 _2doi
040			_bspa _dES-MaUEC
050		4	_aRB155.5 _bJ436 2006
100	1		_aJeanteur, Philippe _eeditor literario _0Local _985421
245	1	0	_aAlternative Splicing and Disease _cedited by Philippe Jeanteur.
260			_aBerlin, Heidelberg _bSpringer International Publishing _c2006
300			_a1 recurso en línea (XII, 257 p.) _b26 ilustraciones 2 en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
490	0		_aProgress in Molecular and Subcellular Biology _x0079-6484 _v44
505	0		_aMethods and Platforms for the Quantification of Splice Variants' Expression -- Pre-mRNA Missplicing as a Cause of Human Disease -- Alternative Splicing: Therapeutic Target and Tool -- SR Proteins as Potential Targets for Therapy -- Misregulation of Tau Alternative Splicing in Neurodegeneration and Dementia -- Spinal Muscular Atrophy and Therapeutic Prospects -- Misregulation of Alternative Splicing Causes Pathogenesis in Myotonic Dystrophy -- Redirecting Splicing to Address Dystrophin Mutations: Molecular By-pass Surgery -- Altered Splicing in Prelamin A-Associated Premature Aging Phenotypes -- Splicing Modulation as a Modifier of the CFTR Function.
520			_aSplicing of primary RNA transcript, i.e. removal of introns and joining of exons to produce mature mRNAs competent for translation into proteins, is a quasi-systematic step of gene expression in higher organisms. However, this process is not unequivocal but can follow alternate pathways. Alternative splicing of a given transcript can therefore yield several distinct mRNAs encoding as many different proteins. Its full biological significance has not been appreciated until it was recognized that alternative splicing is so general as to affect about 75% of all human genes. Therefore, alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences.
650		7	_2embne _9140427 _aEnfermedades hereditarias
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-540-34449-0 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
907			_a.b12819979 _b10-10-17 _c01-10-14
942			_2lcc _cLE
945			_aRB155.5 J436 2006 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11549191 _z06-04-17
988			_aEBSPRINGER
998			_am _a_alco _a_vill _b - - _cm _dz _e- _feng _ggw _h0