Homozygous SMN1 exons 1-6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis
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| Veröffentlicht in: | American Journal of Medical Genetics Part A 2012, Vol.158A (7), p.1735-1741 |
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| container_end_page | 1741 |
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| container_issue | 7 |
| container_start_page | 1735 |
| container_title | American Journal of Medical Genetics Part A |
| container_volume | 158A |
| creator | Thauvin-Robinet, C. Drunat, S. Saugier Veber, P. Chantereau, D. Cossée, M. Cassini, C. Soichot, P. Masurel-Paulet, A. De Monléon, J.V. Sagot, P. Huet, F. Antin, M. Calmels, N. Faivre, L. Gérard, B. |
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| doi_str_mv | 10.1002/ajmg.a.35402 |
| format | Report |
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| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American Journal of Medical Genetics Part A, 2012, Vol.158A (7), p.1735-1741 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_istex_primary_ark_67375_WNG_NQW89DFT_9 |
| source | Wiley Online Library Journals Frontfile Complete |
| subjects | deletion intron 6 genetic counseling SMN1 spinal muscular atrophy |
| title | Homozygous SMN1 exons 1-6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis |
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