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A SCN4A mutation causing paramyotonia congenita.
Neuromuscul Disord. 2017 Dec;27(12):1123-1125. doi: 10.1016/j.nmd.2017.09.008. Epub 2017 Sep 25.
Neuromuscul Disord. 2017.
PMID: 29111379
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP, De Castro CP, Gómez-González C, Martínez-Montero P, Pascual Pascual SI, Molano Mateos J.
Milla CP, et al. Among authors: molano mateos j.
J Genet. 2019 Sep;98:71.
J Genet. 2019.
PMID: 31544778
Free article.
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[The genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. A study of 12 cases].
Torres Jiménez R, Mateos Antón F, Molano Mateos J, García Puig J.
Torres Jiménez R, et al. Among authors: molano mateos j.
Med Clin (Barc). 1997 Mar 8;108(9):344-8.
Med Clin (Barc). 1997.
PMID: 9139158
Review.
Spanish.
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