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SNP information rs28933979

RS28933979

Normal allele: GG

Val30Met transthyretin gene breakage is associated with motor-dominant sensorimotor polyneuropathy and unusual pathological changes of the calf nerve.

Polymorphism rs28933979 is related to topics like this:

Hereditary polyneuropathy

The peripheral nervous system is affected by a diverse range of diseases known as hereditary...

Research and publications:

  1520326   A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.

  6736244   Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).

  9843084   Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family.

  11385707   Transthyretin mutations in hyperthyroxinemia and amyloid diseases.

  11709003   A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.

  11940682   Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.

  14640030   Tabulation of human transthyretin (TTR) variants, 2003.

  14986482   Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy.

  15123043   The hereditary amyloidoses.

  15185492   Amyloidogenic and anti-amyloidogenic properties of recombinant transthyretin variants.

  15249622   Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy.

  16194874   Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants.

  16194875   A Swedish family with the rare Phe33Leu transthyretin mutation.

  17698792   Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP).

  18925456   Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.

  19709674   Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy.

  19808383   Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy.

  20840742   A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.

  28635949   Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.

  34584331   Transthyretin Gene Mutation Associated with Familial Carpal Tunnel Syndrome in Sample of Iraqi Patients.

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