High apolipoprotein E4 allele frequency in FXTAS patients | Zendy

Francisca Silva | Zendy; Laia RodríguezRevenga | Zendy; Irene Madrigal | Zendy; María Isabel ÁlvarezMora | Zendy; Rafael Oliva | Zendy; Montserrat Milà | Zendy

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High apolipoprotein E4 allele frequency in FXTAS patients

Author(s) -

Francisca Silva,

Laia RodríguezRevenga,

Irene Madrigal,

María Isabel ÁlvarezMora,

Rafael Oliva,

Montserrat Milà

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.12

Subject(s) - ataxia , fragile x syndrome , allele , fmr1 , medicine , genotype , apolipoprotein b , apolipoprotein e , intention tremor , endocrinology , genetics , biology , disease , cholesterol , psychiatry , gene

Fragile X-associated tremor/ataxia syndrome is a late-onset neurodegenerative disorder that occurs in FMR1 premutation carriers. It is well known that the apolipoprotein E ε4 allele is a risk factor for neurodegenerative disease. The main goal of this work was to evaluate the apolipoprotein E genotypes and allelic distribution among patients with fragile X-associated tremor/ataxia syndrome.

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