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A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23

During our studies of Romany (Gypsy) families with hereditary motor and sensory neuropathy–Lom, we have identified a large kindred with two independently segregating autosomal recessive neuropathies. The novel disorder, named “hereditary motor and sensory neuropathy–Russe” (HMSNR), presented as a se...

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Détails bibliographiques
Auteurs principaux: Rogers, Tamara, Chandler, David, Angelicheva, Dora, Thomas, P. K., Youl, Bryan, Tournev, Ivailo, Gergelcheva, Velina, Kalaydjieva, Luba
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2000
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287526/
https://ncbi.nlm.nih.gov/pubmed/10915613
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