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Year | Number of Results |
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2004 | 1 |
2007 | 1 |
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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Neurogenetics. 2007 Nov;8(4):279-88. doi: 10.1007/s10048-007-0096-y. Epub 2007 Sep 29.
Neurogenetics. 2007.
PMID: 17906881
Novel retinal findings in an infant with muscle-eye-brain disease.
Khan M, Hamid R, Recchia FM.
Khan M, et al.
Retin Cases Brief Rep. 2012 Spring;6(2):206-8. doi: 10.1097/ICB.0b013e318234ccbe.
Retin Cases Brief Rep. 2012.
PMID: 25390965
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POMGnT1 gene alterations in a family with neurological abnormalities.
Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK.
Vervoort VS, et al.
Ann Neurol. 2004 Jul;56(1):143-8. doi: 10.1002/ana.20172.
Ann Neurol. 2004.
PMID: 15236414
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Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
Voglmeir J, Kaloo S, Laurent N, Meloni MM, Bohlmann L, Wilson IB, Flitsch SL.
Voglmeir J, et al.
Biochem J. 2011 Jun 1;436(2):447-55. doi: 10.1042/BJ20101059.
Biochem J. 2011.
PMID: 21361872
Free PMC article.
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