A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD) is caused by the size reduction of a polymorphic repeat array on 4q35. Probe p13E-11 recognises this chromosomal rearrangement and is generally used for diagnosis. However, diagnosis of FSHD is complicated by three factors. First, the probe cross hybridi...

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Main Authors: van der Maarel, S. M, Deidda, G., Lemmers, R., Bakker, E., van der Wielen, M. J R, Sandkuijl, L., Hewitt, J., Padberg, G., Frants, R.
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 1999
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734251/
https://ncbi.nlm.nih.gov/pubmed/10544225
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