000 01871 a2200541 4500
005 20250515131631.0
264 0 _c20090209
008 200902s 0 0 eng d
022 _a1061-4036
024 7 _a10.1038/ng.199
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aLe Goff, Carine
245 0 0 _aADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
_h[electronic resource]
260 _bNature genetics
_cSep 2008
300 _a1119-23 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aBiological Availability
650 0 4 _aCell Line
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aExtracellular Matrix Proteins
_xgenetics
650 0 4 _aGrowth Disorders
_xgenetics
650 0 4 _aHand Deformities, Congenital
_xgenetics
650 0 4 _aHeart Defects, Congenital
_xgenetics
650 0 4 _aHeart Valves
_xabnormalities
650 0 4 _aHumans
650 0 4 _aMutation
650 0 4 _aTransforming Growth Factor beta
_xmetabolism
700 1 _aMorice-Picard, Fanny
700 1 _aDagoneau, Nathalie
700 1 _aWang, Lauren W
700 1 _aPerrot, Claire
700 1 _aCrow, Yanick J
700 1 _aBauer, Florence
700 1 _aFlori, Elisabeth
700 1 _aProst-Squarcioni, Catherine
700 1 _aKrakow, Deborah
700 1 _aGe, Gaoxiang
700 1 _aGreenspan, Daniel S
700 1 _aBonnet, Damien
700 1 _aLe Merrer, Martine
700 1 _aMunnich, Arnold
700 1 _aApte, Suneel S
700 1 _aCormier-Daire, Valérie
773 0 _tNature genetics
_gvol. 40
_gno. 9
_gp. 1119-23
856 4 0 _uhttps://doi.org/10.1038/ng.199
_zAvailable from publisher's website
999 _c18152492
_d18152492