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September 1, 1994Journal of Medical GeneticsOpen Access

A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.

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Authors

BMBernard MercierUniversity of Minnesota SystemWLWilly LissensVrije Universiteit BrusselGNGiuseppe NovelliPfizer (United States)

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Mercier et al. (1994) studied this question.

synapsesocial.com/papers/6a97b459a2c7923eae15d797https://doi.org/10.1136/jmg.31.9.731
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Detection of more than 94% cystic fibrosis mutations in a sample of belgian population and identification of four novel mutations1993 · 29 citations
  2. 2Identification of 12 novel mutations in the CFTR gene1993 · 70 citations
  3. 3The Metabolic Basis of Inherited Disease.1988 · 7,802 citations