A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers [Elektronisk resurs]

• Our results are the first to show the presence of a 3'UTR polymorphism on the V30M haplotype in Swedish carriers, which can serve as a miRNA binding site potentially leading to down-regulated expression from the mutated TTR allele. This finding may be related to the low penetrance and high age at onset of the disease observed in the Swedish patient population. 

Ämnesord

Medical and Health Sciences  (hsv)

Basic Medicine  (hsv)

Medical Genetics  (hsv)

Medicin och hälsovetenskap  (hsv)

Medicinska grundvetenskaper  (hsv)

Medicinsk genetik  (hsv)

MEDICINE  (svep)

Dermatology and venerology,clinical genetics, internal medicine  (svep)

Clinical genetics  (svep)

MEDICIN  (svep)

Dermatologi och venerologi, klinisk genetik, invärtesmedicin  (svep)

Klinisk genetik  (svep)

genetik  (umu)

Genetics  (umu)

Indexterm och SAB-rubrik

Allele Frequency; Amyloidosis; Amyloid Neuropathies

Familial; Humans; MicroRNA; Polymorphism

Single Nucleotide; Transthyretin; 3' Untranslated Regions/genetics