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:: دوره 14، شماره 4 - ( 9-1395 ) ::
برگشت به فهرست نشریات جلد 14 شماره 4 صفحات 4340-4344
Determination of Contraction of D4Z4 Repeats on Chromosome 4q35 in Iranian Facioscapulohumeral Muscular Dystrophy Patients
چکیده:   (846 مشاهده)

Facioscapulohumeral Muscular Dystrophy (FSHD)is characterized by weakness of the facial, scapular muscles  and the dorsiflexors of the foot. Severity in this disorder is highly variable. Approximately 95% of individuals with FSHD phenotype have type 1 FSHD, with D4Z4 allele of between one and ten repeat units and about 5% have type 2 FSHD with mutations in the chromatin modifier SMCHD1gene which causes the chromatin relaxation at D4Z4. We studied 49 Iranian patients with clinical findings of FSHD, and detected contraction of the D4Z4 repeats located at 4q35 in 40, confirming FSHD type I in 40.

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موضوع مقاله: تخصصي
دریافت: ۱۳۹۵/۱۰/۲۲ | پذیرش: ۱۳۹۵/۱۰/۲۲ | انتشار: ۱۳۹۵/۱۰/۲۲
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Bozorgmehr B, Vahid Dastjerdi M, Kariminejad A. Determination of Contraction of D4Z4 Repeats on Chromosome 4q35 in Iranian Facioscapulohumeral Muscular Dystrophy Patients. G3M. 2016; 14 (4) :4340-4344
URL: http://g3m.ir/article-1-1150-fa.html
Determination of Contraction of D4Z4 Repeats on Chromosome 4q35 in Iranian Facioscapulohumeral Muscular Dystrophy Patients. ژنتیک در هزاره سوم. 1395; 14 (4) :4340-4344

URL: http://g3m.ir/article-1-1150-fa.html

برگشت به فهرست نشریات دوره 14، شماره 4 - ( 9-1395 )
ژنتیک در هزاره سوم Genetics in the 3rd millennium
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