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Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 185, doi. 10.1038/sj.ejhg.5201723
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- Article
Prenatal diagnosis of free sialic acid storage disorders (SASD).
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 8, p. 655, doi. 10.1002/pd.1431
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- Publication type:
- Article
Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 5, p. 354, doi. 10.1002/pd.68
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- Publication type:
- Article
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
- Published in:
- Nature Genetics, 1999, v. 23, n. 4, p. 462, doi. 10.1038/70585
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- Article