000 | 01515 a2200469 4500 | ||
---|---|---|---|
005 | 20250514195631.0 | ||
264 | 0 | _c20040928 | |
008 | 200409s 0 0 eng d | ||
022 | _a0340-5354 | ||
024 | 7 |
_a10.1007/s00415-004-0383-6 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aJou, Shuo-Bin | |
245 | 0 | 0 |
_aNovel CLCN1 mutations in Taiwanese patients with myotonia congenita. _h[electronic resource] |
260 |
_bJournal of neurology _cJun 2004 |
||
300 |
_a666-70 p. _bdigital |
||
500 | _aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aAspartic Acid _xgenetics |
650 | 0 | 4 | _aChild |
650 | 0 | 4 |
_aChloride Channels _xgenetics |
650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGlycine _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIsoleucine _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation, Missense |
650 | 0 | 4 |
_aMyotonia Congenita _xgenetics |
650 | 0 | 4 |
_aPhenylalanine _xgenetics |
650 | 0 | 4 | _aPolymorphism, Genetic |
650 | 0 | 4 |
_aProline _xgenetics |
650 | 0 | 4 |
_aSerine _xgenetics |
650 | 0 | 4 |
_aTaiwan _xepidemiology |
650 | 0 | 4 |
_aThreonine _xgenetics |
700 | 1 | _aChang, Ling-I | |
700 | 1 | _aPan, Huichin | |
700 | 1 | _aChen, Pei-Ru | |
700 | 1 | _aHsiao, Kuang-Ming | |
773 | 0 |
_tJournal of neurology _gvol. 251 _gno. 6 _gp. 666-70 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00415-004-0383-6 _zAvailable from publisher's website |
999 |
_c15010447 _d15010447 |