Article

A Missense Point Mutation in Nerve Growth Factor (NGF <sup>R100W</sup> ) Results in Selective Peripheral Sensory Neuropathy

2019-09-27

Abstract excerpt

<h4>ABSTRACT</h4> A missense point mutation in nerve growth factor (NGF R100W ) is associated with hereditary sensory autonomic neuropathy V (HSAN V), originally discovered in a Swedish family. These patients develop severe loss of perception to deep pain but with apparently normal cognitive functions. To better understand the disease mechanism, we have generated the first NGF R100W knockin mouse model of HSAN...

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Literature Corpus work: 777ccc95-eafd-514b-84fb-1d51bbefee7c
DOI: 10.1101/784660

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