Gross rearrangements in the MECP2 gene i
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E. Schollen; E. Smeets; E. Deflem; J.P. Fryns; G. Matthijs
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Article
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2003
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John Wiley and Sons
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English
β 162 KB
π 1 views
Since 1999, many laboratories have confirmed that mutations in the MECP2 gene are the primary cause of Rett syndrome (RTT or RS) and identified mutations in 70 to 90% of the sporadically affected girls. Most of the screenings are PCR-based and restricted to the coding part of the gene and therefore