000			01953 a2200589 4500
005			20250513124921.0
264		0	_c19971020
008			199710s 0 0 eng d
022			_a0148-7299
024	7		_a10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o _2doi
040			_aNLM _beng _cNLM
100	1		_aByers, P H
245	0	0	_aEhlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. _h[electronic resource]
260			_bAmerican journal of medical genetics _cOct 1997
300			_a94-105 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAdult
650	0	4	_aAlternative Splicing
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aCollagen _xanalysis
650	0	4	_aDNA Primers
650	0	4	_aEhlers-Danlos Syndrome _xgenetics
650	0	4	_aExons _xgenetics
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aInfant, Newborn
650	0	4	_aMale
650	0	4	_aMicroscopy, Electron
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aPedigree
650	0	4	_aPolymerase Chain Reaction
650	0	4	_aProcollagen _xanalysis
650	0	4	_aRNA, Messenger _xmetabolism
650	0	4	_aSequence Analysis, DNA
700	1		_aDuvic, M
700	1		_aAtkinson, M
700	1		_aRobinow, M
700	1		_aSmith, L T
700	1		_aKrane, S M
700	1		_aGreally, M T
700	1		_aLudman, M
700	1		_aMatalon, R
700	1		_aPauker, S
700	1		_aQuanbeck, D
700	1		_aSchwarze, U
773	0		_tAmerican journal of medical genetics _gvol. 72 _gno. 1 _gp. 94-105
856	4	0	_uhttps://doi.org/10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o _zAvailable from publisher's website
999			_c9273680 _d9273680