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