000			01994 a2200613 4500
005			20250513042000.0
264		0	_c19950605
008			199506s 0 0 eng d
022			_a0021-9738
024	7		_a10.1172/JCI117930 _2doi
040			_aNLM _beng _cNLM
100	1		_aMilewicz, D M
245	0	0	_aA mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. _h[electronic resource]
260			_bThe Journal of clinical investigation _cMay 1995
300			_a2373-8 p. _bdigital
500			_aPublication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aAged
650	0	4	_aAlleles
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aBody Height
650	0	4	_aCells, Cultured
650	0	4	_aDNA Primers
650	0	4	_aExons
650	0	4	_aExtracellular Matrix _xpathology
650	0	4	_aExtracellular Matrix Proteins _xbiosynthesis
650	0	4	_aFemale
650	0	4	_aFibrillin-1
650	0	4	_aFibrillins
650	0	4	_aFibroblasts _xpathology
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMarfan Syndrome _xgenetics
650	0	4	_aMicrofilament Proteins _xbiosynthesis
650	0	4	_aMiddle Aged
650	0	4	_aMolecular Sequence Data
650	0	4	_aPedigree
650	0	4	_aPoint Mutation
650	0	4	_aPolymerase Chain Reaction
650	0	4	_aProtein Precursors _xgenetics
650	0	4	_aProtein Processing, Post-Translational
650	0	4	_aProtein Sorting Signals _xchemistry
650	0	4	_aSequence Homology, Amino Acid
650	0	4	_aSkin _xmetabolism
700	1		_aGrossfield, J
700	1		_aCao, S N
700	1		_aKielty, C
700	1		_aCovitz, W
700	1		_aJewett, T
773	0		_tThe Journal of clinical investigation _gvol. 95 _gno. 5 _gp. 2373-8
856	4	0	_uhttps://doi.org/10.1172/JCI117930 _zAvailable from publisher's website
999			_c7737569 _d7737569