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Is the del521T mutation in the gamma-sarcoglycan gene a founder mutation in Mediterranean countries?

✍ Scribed by F. Leturcq; K. Azibi; F. Piccolo; N. Deburgrave; V. Marin; C. de Toma; M. Chaouch; A. Reghis; F. El Kerch; A. Sefiani; A. Sbiti; J-C. Kaplan; M. Jeanpierre


Book ID
117670770
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
128 KB
Volume
7
Category
Article
ISSN
0960-8966

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A large deletion mutation in the CFTR ge
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A deletion mutation of 8.6Kb in the CFTR gene, spanning the exons 17a, 17b and 18 was identified in 4 homozygous unrelated Palestinian CF patients. The patients were of various ethnic subgroups including Muslims, Christians and Druze. The deletion breakpoint occurred within an identical 4bp sequence