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Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.
Robert R Dobrovolny, Petra P Liskova, Jana J Ledvinova, Helena H Poupetova, Befekadu B Asfaw, Martin M Filipec, Katerina K Jirsova, Josef J Kraus and Milan M Elleder
Am J Ophthalmol 143(4):663-71 (2007)
PMID 17239335
To confirm and define a molecular basis for a case of mucolipidosis type IV (ML IV) with an extremely atypical phenotype pattern.
DOI: 10.1016/j.ajo.2006.11.049
Version: za2963e q8za4 q8zb6 q8zc7 q8zdf q8ze9 q8zf2 q8zg9
DOI: 10.1016/j.ajo.2006.11.049
Version: za2963e q8za4 q8zb6 q8zc7 q8zdf q8ze9 q8zf2 q8zg9
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