Ricci, G;
Scionti, I;
Sera, F;
Govi, M;
D'Amico, R;
Frambolli, I;
Mele, F;
... Tupler, R; + view all
(2013)
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
BRAIN
, 136
pp. 3408-3417.
10.1093/brain/awt226.
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| Type: | Article |
|---|---|
| Title: | Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1093/brain/awt226 |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, facioscapulohumeral muscular dystrophy, D4Z4 reduced allele, genotype-phenotype correlations, penetrance, disease expression, MOLECULAR DIAGNOSIS, FSHD, 4Q35, PENETRANCE, VALIDATION, MUTATION, MODEL, ONSET, SCORE, SIZE |
| UCL classification: | UCL |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1415995 |
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