Adelaide Research & Scholarship
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https://hdl.handle.net/2440/92969
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| Type: | Journal article |
| Title: | Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome |
| Author: | Shaw, M. Yap, T. Henden, L. Bahlo, M. Gardner, A. Kalscheuer, V. Haan, E. Christie, L. Hackett, A. Gecz, J. |
| Citation: | European Journal of Medical Genetics, 2015; 58(6-7):364-368 |
| Publisher: | Elsevier |
| Issue Date: | 2015 |
| ISSN: | 1769-7212 1878-0849 |
| Statement of Responsibility: | Marie Shawa, Tzu Ying Yap, Lyndal Hendend, Melanie Bahlod, Alison Gardnera, Vera M. Kalscheuerg, Eric Haanb, Louise Christiei, Anna Hacketti, Jozef Gecz |
| Abstract: | Abstract not available |
| Keywords: | L1CAM; X-linked intellectual disability; Identical by descent; Massively parallel sequencing; X-chromosome exome |
| Rights: | © 2015 Elsevier Masson SAS. |
| DOI: | 10.1016/j.ejmg.2015.04.004 |
| Grant ID: | http://purl.org/au-research/grants/nhmrc/628952 http://purl.org/au-research/grants/nhmrc/1041920 http://purl.org/au-research/grants/nhmrc/1008077 http://purl.org/au-research/grants/nhmrc/1054618 http://purl.org/au-research/grants/arc/FT100100764 |
| Published version: | http://dx.doi.org/10.1016/j.ejmg.2015.04.004 |
| Appears in Collections: | Aurora harvest 7 Medicine publications |
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