Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 pr...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Rio, M, Molinari, F, Heuertz, S, Ozilou, C, Gosset, P, Raoul, O, Cormier-Daire, V, Amiel, J, Lyonnet, S, Le Merrer, M, Turleau, C, de Blois, M-C, Prieur, M, Romana, S, Vekemans, M, Munnich, A, Colleaux, L
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2002
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735076/
https://ncbi.nlm.nih.gov/pubmed/11950856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.4.266
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