000 | 01591 a2200493 4500 | ||
---|---|---|---|
005 | 20250513081701.0 | ||
264 | 0 | _c19930521 | |
008 | 199305s 0 0 eng d | ||
022 | _a1059-7794 | ||
024 | 7 |
_a10.1002/humu.1380020106 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aWu, Y | |
245 | 0 | 0 |
_aTemperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV. _h[electronic resource] |
260 |
_bHuman mutation _c1993 |
||
300 |
_a28-36 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 | _aAdolescent |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAlleles |
650 | 0 | 4 | _aAmino Acid Sequence |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aDNA |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 |
_aEhlers-Danlos Syndrome _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aIntrons |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aProcollagen _xgenetics |
650 | 0 | 4 | _aRNA Splicing |
650 | 0 | 4 |
_aRNA, Messenger _xmetabolism |
650 | 0 | 4 | _aTemperature |
700 | 1 | _aKuivaniemi, H | |
700 | 1 | _aTromp, G | |
700 | 1 | _aStrobel, D | |
700 | 1 | _aRomanic, A M | |
700 | 1 | _aProckop, D J | |
773 | 0 |
_tHuman mutation _gvol. 2 _gno. 1 _gp. 28-36 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.1380020106 _zAvailable from publisher's website |
999 |
_c8476530 _d8476530 |