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A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis

✍ Scribed by Nobutada Tachi; Naoki Kozuka; Kazuhiro Ohya; Shunzo Chiba; Kimio Sasaki; Keichi Uyemura; Kiyoshi Hayasaka


Book ID
116125422
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
377 KB
Volume
204
Category
Article
ISSN
0304-3940

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In a previous study, we have shown that N-myc downstream-regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal-response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot-Marie-Tooth (CMT) disease