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A LIFE WITHOUT PAIN: CONGENITAL INSENSITIVITY TO PAIN DUE TO COMPOUND HETEROZYGOUS SCN9A MUTATION

✍ Scribed by Dr Alan Ma; Dr Anne Turner


Book ID
115171481
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
361 KB
Volume
48
Category
Article
ISSN
1034-4810

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SCN9A encodes the voltage-gated sodium channel Na v 1.7, a protein highly expressed in pain-sensing neurons. Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause s