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Thr(118)met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication

Marques, W; Sweeney, MG; Wood, NW; (2003) Thr(118)met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication. BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH , 36 (10) pp. 1403-1407. 10.1590/S0100-879X2003001000018.

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Type: Article
Title: Thr(118)met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication
DOI: 10.1590/S0100-879X2003001000018
Keywords: Science & Technology, Life Sciences & Biomedicine, Biology, Medicine, Research & Experimental, Life Sciences & Biomedicine - Other Topics, Research & Experimental Medicine, Charcot-Marie-Tooth disease, CMT1A, PMP22 point mutation, 17p duplication, hotspot, PMP22 POINT MUTATIONS, NEUROPATHIES
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/1540566
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