000 01490 a2200493 4500
005 20250514065746.0
264 0 _c20030805
008 200308s 0 0 eng d
022 _a1468-6244
024 7 _a10.1136/jmg.40.5.e67
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBoito, C
245 0 0 _aNovel sarcoglycan gene mutations in a large cohort of Italian patients.
_h[electronic resource]
260 _bJournal of medical genetics
_cMay 2003
300 _ae67 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAge of Onset
650 0 4 _aBase Sequence
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCohort Studies
650 0 4 _aCytoskeletal Proteins
_xanalysis
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDystroglycans
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aImmunoblotting
650 0 4 _aImmunohistochemistry
650 0 4 _aItaly
650 0 4 _aMale
650 0 4 _aMass Screening
_xmethods
650 0 4 _aMembrane Glycoproteins
_xanalysis
650 0 4 _aMutation
_xgenetics
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aSarcoglycans
700 1 _aFanin, M
700 1 _aSiciliano, G
700 1 _aAngelini, C
700 1 _aPegoraro, E
773 0 _tJournal of medical genetics
_gvol. 40
_gno. 5
_gp. e67
856 4 0 _uhttps://doi.org/10.1136/jmg.40.5.e67
_zAvailable from publisher's website
999 _c12534880
_d12534880