Mutation analysis of 184 cystic fibrosis families in Wales

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Prevalence of cystic fibrosis mutations in the Grampian region of Scotland.The impact of population based screening for carriers of cystic fibrosis.Uptake of cystic fibrosis testing in primary care: supply push or demand pull?Cost effectiveness of antenatal screening for cystic fibrosis.

P2860

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P2860

Mutation analysis of 184 cystic fibrosis families in Wales

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http://www.wikidata.org/entity/Q41642795

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1992 nî lūn-bûn

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1992年の論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年论文

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1992年论文

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1992年论文

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name

Mutation analysis of 184 cystic fibrosis families in Wales

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type

Item

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Mutation analysis of 184 cystic fibrosis families in Wales

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Mutation analysis of 184 cystic fibrosis families in Wales

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P1476

Mutation analysis of 184 cystic fibrosis families in Wales

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P2093

Cheadle J

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Meredith L

http://www.w3.org/2001/XMLSchema#string

Myring J

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al-Jader L

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P2860

Identification of the cystic fibrosis gene: chromosome walking and jumping

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

Identification of the cystic fibrosis gene: genetic analysis

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

Screening for carriers of cystic fibrosis through primary health care services.

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

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.

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

P304

642-646

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scholarly article

P356

10.1136/JMG.29.9.642

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English

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http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

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1992-09-01T00:00:00Z

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21798890

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1357180

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P921

cystic fibrosis

P932

1016096

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Mutation analysis of 184 cystic fibrosis families in Wales

about

P2860

P2860

Mutation analysis of 184 cystic fibrosis families in Wales

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P921

P932