000			01397 a2200373 4500
005			20250514155607.0
264		0	_c20040412
008			200404s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.10273 _2doi
040			_aNLM _beng _cNLM
100	1		_aFernández, Raquel M
245	0	0	_aThe RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes. _h[electronic resource]
260			_bHuman mutation _cNov 2003
300			_a412-5 p. _bdigital
500			_aPublication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aFemale
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aHirschsprung Disease _xcomplications
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMultiple Endocrine Neoplasia Type 2a _xcomplications
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aPoint Mutation
650	0	4	_aProto-Oncogene Proteins _xgenetics
650	0	4	_aProto-Oncogene Proteins c-ret
650	0	4	_aReceptor Protein-Tyrosine Kinases _xgenetics
700	1		_aAntiñolo, Guillermo
700	1		_aEng, Charis
700	1		_aBorrego, Salud
773	0		_tHuman mutation _gvol. 22 _gno. 5 _gp. 412-5
856	4	0	_uhttps://doi.org/10.1002/humu.10273 _zAvailable from publisher's website
999			_c14278261 _d14278261