000 01423 a2200433 4500
005 20250513053804.0
264 0 _c19950106
008 199501s 0 0 eng d
022 _a1061-4036
024 7 _a10.1038/ng0994-98
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aReardon, W
245 0 0 _aMutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
_h[electronic resource]
260 _bNature genetics
_cSep 1994
300 _a98-103 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aBase Sequence
650 0 4 _aChromosomes, Human, Pair 10
650 0 4 _aCraniofacial Dysostosis
_xgenetics
650 0 4 _aExons
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aLod Score
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
650 0 4 _aPedigree
650 0 4 _aPolymorphism, Single-Stranded Conformational
650 0 4 _aReceptor Protein-Tyrosine Kinases
_xgenetics
650 0 4 _aReceptor, Fibroblast Growth Factor, Type 2
650 0 4 _aReceptors, Fibroblast Growth Factor
_xgenetics
700 1 _aWinter, R M
700 1 _aRutland, P
700 1 _aPulleyn, L J
700 1 _aJones, B M
700 1 _aMalcolm, S
773 0 _tNature genetics
_gvol. 8
_gno. 1
_gp. 98-103
856 4 0 _uhttps://doi.org/10.1038/ng0994-98
_zAvailable from publisher's website
999 _c7986729
_d7986729