Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

Monosomy 1p36 is considered the most common subtelomeric deletion syndrome in humans and it accounts for 0.5–0.7% of all the cases of idiopathic intellectual disability. The molecular diagnosis is often made by microarray-based comparative genomic hybridization (aCGH), which has the drawback of bein...

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Main Authors: Cunha, Pricila da Silva, Pena, Heloisa B., D'Angelo, Carla Sustek, Koiffmann, Celia P., Rosenfeld, Jill A., Shaffer, Lisa G., Stofanko, Martin, Gonçalves-Dornelas, Higgor, Pena, Sérgio Danilo Junho
Format: Artigo
Jezik:Inglês
Izdano: Hindawi Publishing Corporation 2014
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4009252/
https://ncbi.nlm.nih.gov/pubmed/24839341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/836082
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