Please use this identifier to cite or link to this item: http://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.
RMID: 0030028215
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
Appears in Collections:Medicine publications

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