000			01892 a2200601 4500
005			20250514003753.0
264		0	_c20010816
008			200108s 0 0 eng d
022			_a1061-4036
024	7		_a10.1038/ng576 _2doi
040			_aNLM _beng _cNLM
100	1		_aAnikster, Y
245	0	0	_aMutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. _h[electronic resource]
260			_bNature genetics _cAug 2001
300			_a376-80 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAlleles
650	0	4	_aAmino Acid Sequence
650	0	4	_aBlotting, Northern
650	0	4	_aCarrier Proteins _xgenetics
650	0	4	_aChromosomes, Human, Pair 3 _xgenetics
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFemale
650	0	4	_aFounder Effect
650	0	4	_aGenetic Carrier Screening
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aGenotype
650	0	4	_aHermanski-Pudlak Syndrome _xepidemiology
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aIntracellular Signaling Peptides and Proteins
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aOrgan Specificity
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aPhysical Chromosome Mapping
650	0	4	_aPuerto Rico _xepidemiology
650	0	4	_aSequence Deletion
700	1		_aHuizing, M
700	1		_aWhite, J
700	1		_aShevchenko, Y O
700	1		_aFitzpatrick, D L
700	1		_aTouchman, J W
700	1		_aCompton, J G
700	1		_aBale, S J
700	1		_aSwank, R T
700	1		_aGahl, W A
700	1		_aToro, J R
773	0		_tNature genetics _gvol. 28 _gno. 4 _gp. 376-80
856	4	0	_uhttps://doi.org/10.1038/ng576 _zAvailable from publisher's website
999			_c11383653 _d11383653