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https://hdl.handle.net/2440/99429
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Type: | Journal article |
Title: | A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts |
Author: | Ha, T. Sadleir, L. Mandelstam, S. Paterson, S. Scheffer, I. Gecz, J. Corbett, M. |
Citation: | American Journal of Medical Genetics Part A, 2016; 170(4):1059-1063 |
Publisher: | Wiley |
Issue Date: | 2016 |
ISSN: | 1552-4833 1552-4833 |
Statement of Responsibility: | Thuong T. Ha, Lynette G. Sadleir, Simone A. Mandelstam, Sarah J. Paterson, Ingrid E. Scheffer, Jozef Gecz and Mark A. Corbett |
Abstract: | Abstract not available |
Keywords: | COL4A1 COL4A2 porencephaly epilepsy cataracts autosomal dominant |
Rights: | © 2015 Wiley Periodicals, Inc. |
DOI: | 10.1002/ajmg.a.37527 |
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/1006110 |
Published version: | http://dx.doi.org/10.1002/ajmg.a.37527 |
Appears in Collections: | Aurora harvest 3 Medicine publications |
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