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X-linked vacuolar myopathies: Two separate loci and refined genetic mapping

✍ Scribed by Mari Auranen; Marcello Villanova; Francesco Muntoni; Michel Fardeau; Stephen W. Scherer; Hannu Kalino; Berge A. Minassian

Book ID
102681830
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
992 KB
Volume
47
Category
Article
ISSN
0364-5134

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We have previously described thoracoabdominal syndrome [TAS;Carmi et al., 19901 and mapped the gene to Xq25-26 [Parvari et al., 19941. After using new polymorphic markers made available since the previous publication, and detecting a reading error of one allele of a CA repeat a t the DXSlO2 locus in