Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux‐Lamy syndrome

@article{Isbrandt1996TwoNF,
  title={Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux‐Lamy syndrome},
  author={Dirk Isbrandt and John Joseph Hopwood and Kurt von Figura and Christoph Peters},
  journal={Human Mutation},
  year={1996},
  volume={7}
}

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Investigating the genetic basis of cranial cruciate ligament rupture in the Newfoundland dog

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Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfat enzyme deficiency).

Análisis genético y molecular del síndrome de Maroteaux-Lamy

Esta tesis es una contribucion al conocimiento del sindrome de Maroteux-Lamy en el terreno de la genetica molecular. El sindrome de Maroteaux-Lamy o mucopolisacaridosis de tipo VI (MPS VI) es una

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