Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.

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Standards and guidelines for CFTR mutation testing.Cost effectiveness of antenatal screening for cystic fibrosis.Genetic testing in the European Union: does economic evaluation matter?

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P2860

Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.

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1994 nî lūn-bûn

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1994年の論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年论文

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1994年论文

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1994年论文

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Evaluation of laboratory metho ...... ivity, specificity, and costs.

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Evaluation of laboratory metho ...... ivity, specificity, and costs.

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Evaluation of laboratory metho ...... ivity, specificity, and costs.

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P1476

Evaluation of laboratory metho ...... ivity, specificity, and costs.

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K F Kelly

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N E Haites

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Z H Miedzybrodzka

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Z Yin

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P2860

Identification of the cystic fibrosis gene: genetic analysis

Prevalence of cystic fibrosis mutations in the Grampian region of Scotland.

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot.

Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.

The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

A deletion mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) locus: Delta I507.

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545-550

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scholarly article

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10.1136/JMG.31.7.545

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English

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1994-07-01T00:00:00Z

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15673071

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7525964

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1049977

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Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.

about

P2860

P2860

Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.

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type

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P1433

P1476

P2093

P2860

P304

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P356

P407

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P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P932