Dejerine‐sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible “hot spot” on Ser72
Copyright policy ) W, Marques; P K, Thomas; M G, Sweeney; L, Carr; N W, Wood;
Dejerine‐sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible “hot spot” on Ser72
AbstractThe occurrence of mutations in peripheral myelin protein 22 is one of the genetic mechanisms associated with Dejerine‐Sottas neuropathy (DSN). On direct sequencing 2 of such patients we have found the first mutation in the third transmembrane domain associated with this neuropathy and the fourth Ser72Leu. We Propose that the Ser72 may be a “hot spot” for DSN and that this should be considered for molecular analysis.
- Royal Free London NHS Foundation Trust United Kingdom
- University of London United Kingdom
- UCL Queen Square Institute of Neurology United Kingdom
- Institute of Child Health India
- The Royal Free Hospital United Kingdom
Adult, Male, DNA Mutational Analysis, Exons, Amino Acid Substitution, Serine, Humans, Point Mutation, Female, Child, Hereditary Sensory and Motor Neuropathy
Adult, Male, DNA Mutational Analysis, Exons, Amino Acid Substitution, Serine, Humans, Point Mutation, Female, Child, Hereditary Sensory and Motor Neuropathy
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Citations provided by BIP!popularityPopularity provided by BIP!
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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