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Published in Brain (London, England : 1878) (01.11.2015)
Published in Brain (London, England : 1878) (01.11.2015)
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Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient
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Published in JIMD Reports - Case and Research Reports, 2012/1 (01.01.2012)
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Coutinho, Maria Francisca, Santos, Liliana da Silva, Girisha, Katta Mohan, Satyamoorthy, Kapaettu, Lacerda, Lúcia, Prata, Maria João, Alves, Sandra
Published in American journal of medical genetics. Part A (01.05.2012)
Published in American journal of medical genetics. Part A (01.05.2012)
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Journal Article
Mucolipidosis type II [alpha]/[beta] with a homozygous missense mutation in the GNPTAB gene
Coutinho, Maria Francisca, Santos, Liliana da Silva, Girisha, Katta Mohan, Satyamoorthy, Kapaettu, Lacerda, Lúcia, Prata, Maria João, Alves, Sandra
Published in American journal of medical genetics. Part A (01.05.2012)
Published in American journal of medical genetics. Part A (01.05.2012)
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Journal Article