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001			76562
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007			cr nn 008mamaa
008			140625s2014 gw | s |||| 0|eng d
020			_a9783642552885
024	7		_a10.1007/978-3-642-55288-5 _2doi
050		4	_aRB155.5 _b.L544 2014 EB
082	0	4	_a611.01816
082	0	4	_a599.935
100	1		_aLiehr, Thomas _985690 _0Local
245	1	0	_aUniparental Disomy (UPD) in Clinical Genetics : _bA Guide for Clinicians and Patients _cby Thomas Liehr
260			_aBerlin, Heidelberg _bSpringer International Publishing _c2014
300			_a1 recurso en línea (XVIII, 192 p.) _b36 ilustraciones, 26 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
338			_arecurso electrónico _bcr _2rdacarrier
505	0		_aIntroduction -- Formation of UPD -- UPD in diagnostics and genetic counseling -- UPD related syndromes caused by imprinting -- Maternal UPD by chromosome -- Paternal UPD by chromosome -- UPD of unclear parental origin by chromosome -- UPD of multiple chromosomes or chromosomal regions -- Acquired UPD -- Patient organizations in connection with UPD-. Glossary-. References -- Index
520			_aThis book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims
942			_2lcc _cLE
988			_aEBOOK, EBSPRINGERrevisando
650		7	_aGenética médica _0comprobar BNE19913258705 _2embne _9144879
650	0	7	_aCromosomas _0LocalV _2embne _9139992
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-642-55288-5 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
901			_ai9783642552885
907			_a.b12821809 _b10-10-17 _c01-10-14
998			_am _a_alco _a_vill _b31-07-17 _cm _dz _eb _feng _ggw _h0
945			_aRB155.5 L544 2014 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i1155101x _z06-04-17
999			_c76562 _d76562 _x1