000 01390 a2200397 4500
005 20250515041456.0
264 0 _c20070130
008 200701s 0 0 eng d
022 _a1468-6244
024 7 _a10.1136/jmg.2006.044859
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aFanin, M
245 0 0 _aScreening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
_h[electronic resource]
260 _bJournal of medical genetics
_cJan 2007
300 _a38-43 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAge of Onset
650 0 4 _aAmino Acid Substitution
650 0 4 _aBase Sequence
650 0 4 _aBiopsy
650 0 4 _aCalpain
_xchemistry
650 0 4 _aExons
650 0 4 _aHumans
650 0 4 _aModels, Molecular
650 0 4 _aMuscle Proteins
_xchemistry
650 0 4 _aMuscle, Skeletal
_xenzymology
650 0 4 _aMuscular Dystrophies, Limb-Girdle
_xdiagnosis
650 0 4 _aMutation, Missense
650 0 4 _aPolymorphism, Single-Stranded Conformational
650 0 4 _aProtein Structure, Tertiary
650 0 4 _aRetrospective Studies
700 1 _aNascimbeni, A C
700 1 _aAngelini, C
773 0 _tJournal of medical genetics
_gvol. 44
_gno. 1
_gp. 38-43
856 4 0 _uhttps://doi.org/10.1136/jmg.2006.044859
_zAvailable from publisher's website
999 _c16553877
_d16553877