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January 1, 1996Molecular Human Reproduction

Identification of the five most common cystic fibrosis mutations in single cells using a rapid and specific differential amplification system

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Authors

GSGraeme ScobieMRC Centre for Reproductive HealthBWBridget WoodroffeQueen's Medical CentreSFSimon FishelLiverpool John Moores University

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Scobie et al. (1996) studied this question.

synapsesocial.com/papers/6a950d30a474f93310169a28https://doi.org/10.1093/molehr/2.3.203
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Detection of both the normal and mutant alleles in single cells of individuals heterozygous for the sickle cell mutation—prelude to preimplantation diagnosis1993 · 19 citations
  2. 2Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA1989 · 7,484 citations
  3. 3A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.1994 · 8 citations
  4. 4Genetics: Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and ΔF508 mutations*1994 · 23 citations
  5. 5Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy.1993 · 41 citations