000			01602 a2200493 4500
005			20250513151202.0
264		0	_c19981020
008			199810s 0 0 eng d
022			_a0148-7299
040			_aNLM _beng _cNLM
100	1		_aPark, E S
245	0	0	_aClustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. _h[electronic resource]
260			_bAmerican journal of medical genetics _cJul 1998
300			_a350-5 p. _bdigital
500			_aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAdult
650	0	4	_aAlleles
650	0	4	_aAmino Acid Substitution
650	0	4	_aChild
650	0	4	_aContracture _xgenetics
650	0	4	_aExons _xgenetics
650	0	4	_aFemale
650	0	4	_aFibrillin-1
650	0	4	_aFibrillin-2
650	0	4	_aFibrillins
650	0	4	_aFibroblasts
650	0	4	_aGenes, Dominant
650	0	4	_aGenetic Testing
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMale
650	0	4	_aMarfan Syndrome _xembryology
650	0	4	_aMicrofilament Proteins _xgenetics
650	0	4	_aMiddle Aged
650	0	4	_aMosaicism
650	0	4	_aMutation
650	0	4	_aPolymorphism, Single-Stranded Conformational
650	0	4	_aScoliosis
700	1		_aPutnam, E A
700	1		_aChitayat, D
700	1		_aChild, A
700	1		_aMilewicz, D M
773	0		_tAmerican journal of medical genetics _gvol. 78 _gno. 4 _gp. 350-5
999			_c9679943 _d9679943