000			01925 a2200589 4500
005			20250514001446.0
264		0	_c20010726
008			200107s 0 0 eng d
022			_a0027-8424
024	7		_a10.1073/pnas.121027598 _2doi
040			_aNLM _beng _cNLM
100	1		_aCamacho Vanegas, O
245	0	0	_aUllrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. _h[electronic resource]
260			_bProceedings of the National Academy of Sciences of the United States of America _cJun 2001
300			_a7516-21 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aBase Sequence
650	0	4	_aBiopsy
650	0	4	_aCells, Cultured
650	0	4	_aChild
650	0	4	_aCollagen _xgenetics
650	0	4	_aConnective Tissue Diseases _xblood
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aFibroblasts _xpathology
650	0	4	_aGenes, Recessive
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aItaly
650	0	4	_aMale
650	0	4	_aMuscle, Skeletal _xpathology
650	0	4	_aMuscular Dystrophies _xblood
650	0	4	_aMutation
650	0	4	_aPedigree
650	0	4	_aPoint Mutation
650	0	4	_aRNA, Messenger _xchemistry
650	0	4	_aReverse Transcriptase Polymerase Chain Reaction
650	0	4	_aSequence Deletion
650	0	4	_aSkin _xpathology
650	0	4	_aSyndrome
650	0	4	_aWhite People
700	1		_aBertini, E
700	1		_aZhang, R Z
700	1		_aPetrini, S
700	1		_aMinosse, C
700	1		_aSabatelli, P
700	1		_aGiusti, B
700	1		_aChu, M L
700	1		_aPepe, G
773	0		_tProceedings of the National Academy of Sciences of the United States of America _gvol. 98 _gno. 13 _gp. 7516-21
856	4	0	_uhttps://doi.org/10.1073/pnas.121027598 _zAvailable from publisher's website
999			_c11312374 _d11312374