Global ETD Search
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Showing 1 to 2 of 2 for “"HSAN"”.
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Charakterisierung der Auswirkungen einer pathogenen Mutation im Neurotrophinrezeptorgen trkA im Zellkulturmodell
… sensory and autonomous neuropathy type IV (HSAN IV or CIPA = congenital insensitivity to pain with anhidrosis). This autosomal recessive disorder manifests in loss of pain and temperature sensitivity, the inability to sweat and often also mental retardation. Due to the human pathogenic …
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Investigation into the molecular mechanisms of congenital insensitivity to pain
Congenital insensitivity to pain (CIP) is an extremely rare inherited disorder characterised by the inability to perceive physical pain from birth, resulting in a number of injuries including self-mutilation, repeated burns and fractures. A number of different genes underlying CIP have been …