Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

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Background: Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16. Methods and Results: A bacterial artificial chromosome (BAC) array comparative genome hybrid...

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Hlavní autoři: Hannes, F, Sharp, A, Mefford, H, de Ravel, T, Ruivenkamp, C, Breuning, M, Fryns, J, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R, Cooper, G, Regan, R, Knight, S, Eichler, E, Vermeesch, JR
Médium: Journal article
Jazyk:English
Vydáno: 2009

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