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Diagnosis and Genetic Counseling for Friedreich’s Ataxia: A time for consideration of TP-PCR in an Indian Setup
Background and Introduction: Expansion of GAA triplet repeats in the first intron of the frataxin gene causes Friedreich’s ataxia. Genetic testing in such condition is important to initiate the appropriate genetic counseling for the family members. The conventional genetic tests used in the diagnosi...
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| Main Authors: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
SOCIETY OF "FRIENDS OF HIPPOKRATIA JOURNAL"
2013
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3738275/ https://ncbi.nlm.nih.gov/pubmed/23935342 |
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