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Diverse prevalence of large deletions within theOA1gene in ocular albinism type

✍ Scribed by M. Bassi; Arthur Bergen; Pierre Bitoun; Stephen Charles; Maurizio Clementi; Richard Gosselin; Jane Hurst; Richard Lewis; Birgit Lorenz; Thomas Meitinger; Ludwine Messiaen; Rajkumar Ramesar; Andrea Ballabio; M. Schiaffino


Book ID
106136314
Publisher
Springer
Year
2001
Tongue
English
Weight
36 KB
Volume
108
Category
Article
ISSN
0340-6717

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✍ Li Juan Fang; Dominique Vidaud; Michel Vidaud; Jean-Paul Thirion πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 248 KB πŸ‘ 2 views

We studied 20 unrelated NF1 patients by Southern blots with seven cDNA probes and loss of heterozygosity (LOH) analysis with four intragenic microsatellites (IVS26-2.3, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0). Four novel large deletions (178, 184, 236, and 237) have been identified and characteri