000			01997 a2200625 4500
005			20250515030801.0
264		0	_c20060807
008			200608s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.20348 _2doi
040			_aNLM _beng _cNLM
100	1		_aFarrington-Rock, Claire
245	0	0	_aMutations in two regions of FLNB result in atelosteogenesis I and III. _h[electronic resource]
260			_bHuman mutation _cJul 2006
300			_a705-10 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Sequence
650	0	4	_aContractile Proteins _xchemistry
650	0	4	_aDNA Mutational Analysis
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aFetal Diseases _xdiagnostic imaging
650	0	4	_aFilamins
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aMale
650	0	4	_aMicrofilament Proteins _xchemistry
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation, Missense
650	0	4	_aOsteochondrodysplasias _xdiagnostic imaging
650	0	4	_aPregnancy
650	0	4	_aPrenatal Diagnosis
650	0	4	_aProtein Structure, Tertiary
650	0	4	_aRadiography
650	0	4	_aSequence Alignment
700	1		_aFirestein, Marc H
700	1		_aBicknell, Louise S
700	1		_aSuperti-Furga, Andrea
700	1		_aBacino, Carlos A
700	1		_aCormier-Daire, Valerie
700	1		_aLe Merrer, Martine
700	1		_aBaumann, Clarisse
700	1		_aRoume, Joelle
700	1		_aRump, Patrick
700	1		_aVerheij, Joke B G M
700	1		_aSweeney, Elizabeth
700	1		_aRimoin, David L
700	1		_aLachman, Ralph S
700	1		_aRobertson, Stephen P
700	1		_aCohn, Daniel H
700	1		_aKrakow, Deborah
773	0		_tHuman mutation _gvol. 27 _gno. 7 _gp. 705-10
856	4	0	_uhttps://doi.org/10.1002/humu.20348 _zAvailable from publisher's website
999			_c16348835 _d16348835