Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11
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- Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11
Journal of Inherited Metabolic Disease
Volume 18, Issue 2 , pp 211-214
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- Kluwer Academic Publishers
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- 1. Department of Pediatrics, Federico II University, Via S. Pansini 5, 80131, Napoli, Italy
- 2. Laboratoire de Biochimie, Hôpital Pasteur 30, Nice, France
- 3. Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado, USA