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Congenital Insensitivity to Pain: A Case Report and Review of the Literature
Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Hindawi Publishing Corporation
2014
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4182687/ https://ncbi.nlm.nih.gov/pubmed/25309764 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/141953 |
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