000 | 01714 a2200469 4500 | ||
---|---|---|---|
005 | 20250513204823.0 | ||
264 | 0 | _c20000411 | |
008 | 200004s 0 0 eng d | ||
022 | _a1364-6745 | ||
024 | 7 |
_a10.1007/s100480050008 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aDuggan, D J | |
245 | 0 | 0 |
_aMutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). _h[electronic resource] |
260 |
_bNeurogenetics _cMay 1997 |
||
300 |
_a49-58 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S. | ||
650 | 0 | 4 | _aChromosomes, Human, Pair 5 |
650 | 0 | 4 |
_aCytoskeletal Proteins _xchemistry |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 |
_aDystrophin _xgenetics |
650 | 0 | 4 | _aFluorescent Antibody Technique |
650 | 0 | 4 | _aFollow-Up Studies |
650 | 0 | 4 | _aGenes, Recessive |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aMembrane Glycoproteins _xchemistry |
650 | 0 | 4 | _aMicrosatellite Repeats |
650 | 0 | 4 |
_aMuscle, Skeletal _xmetabolism |
650 | 0 | 4 |
_aMuscular Dystrophies _xgenetics |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aPolymorphism, Single-Stranded Conformational |
650 | 0 | 4 | _aProtein Structure, Secondary |
650 | 0 | 4 | _aReverse Transcriptase Polymerase Chain Reaction |
650 | 0 | 4 | _aSarcoglycans |
700 | 1 | _aManchester, D | |
700 | 1 | _aStears, K P | |
700 | 1 | _aMathews, D J | |
700 | 1 | _aHart, C | |
700 | 1 | _aHoffman, E P | |
773 | 0 |
_tNeurogenetics _gvol. 1 _gno. 1 _gp. 49-58 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1007/s100480050008 _zAvailable from publisher's website |
999 |
_c10688815 _d10688815 |