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Molecular diagnosis of spinal muscular atrophy in Egyptians

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Abstract
This study was carried out with 33 spinal muscular atrophy [‎SMA]‎ patients. DNA molecular studies of the SMA gene on the long arm of chromosome 5 [‎5q11.2q13.3]‎ revealed homozygous deletion of exon 7 in 55% of cases, 36% of whom also had a homozygous delition of exon 8. The adult patients were heterozygous for an abnormal size exon 8. The remaining patients had either compound heterozygote deletion of exons 7 and 8 or were normal for both. There may therefore be 5q-unlinked SMA or SMA due to other mutations. Detection of deletions of SMA exons 7 and 8 is a powerful diagnostic test in patients with SMA, but other mutations among Egyptians must also be sought
Citation
Shawky, R.M., Abdel Aleem, K., Rifaat, M.M. & Moustafa, A. (‎2001)‎. Molecular diagnosis of spinal muscular atrophy in Egyptians. http://www.who.int/iris/handle/10665/119012
Relation
EMHJ - Eastern Mediterranean Health Journal, 7 (‎1-2)‎, 229-237, 2001
Description
229-237
ISSN
1020-3397
Other Identifiers
http://applications.emro.who.int/emhj/0701_2/2001_7_1-2_229_237.pdf
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  • EMRO Journal Articles (‎EMHJ)‎
Language
English
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