GAA REPEAT POLYMORPHISM IN TURKISH FRIEDREICH'S ATAXIA PATIENTS

Friedreich's ataxia (FRDA), the most common subtype of early onset hereditary spinocerebellar ataxia (SCA), is an autosomal recessive neurodegenerative disorder caused by unstable GAA tri-nucleotide expansions in the first intron of FRDA gene located at 9q13-q21.1 position. Results of GAA repea...

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Veröffentlicht in:	International journal of neuroscience 2006-05, Vol.116 (5), p.565-574
Hauptverfasser:	YILMAZ, M. BERTAN, KOÇ, A. F L Z, KASAP, HAL L, GÜZEL, A. RFAN, SARICA, YAKUP, SÜLEYMANOVA, D LARA
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Child DNA Mutational Analysis - methods Family Health Female Frataxin Friedreich Ataxia - genetics Friedreich's ataxia GAA repeat Humans Iron-Binding Proteins - genetics Male Polymorphism, Genetic Trinucleotide Repeat Expansion - genetics Turkey - epidemiology Turkish FRDA
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