Complete detection of mutations in cystic fibrosis patients of Native American origin. (Q53827071)

20 May 2018

title

Complete detection of mutations in cystic fibrosis patients of Native American origin. (English)

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20 May 2018

Xavier Estivill i Pallejà

main subject

cystic fibrosis

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author

3

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20 May 2018

Núria Morral

object named as

N Morral

4

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author name string

B Mercier

1

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O Raguénès

2

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G C Kaplan

5

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M McClure

6

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T A Grebe

7

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D Kessler

8

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P F Pignatti

9

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C Marigo

10

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publication date

1 December 1994

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20 May 2018

published in

Human Genetics

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volume

94

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issue

6

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20 May 2018

page(s)

629-632

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https://scigraph.springernature.com/pub.10.1007/bf00206956

exact match

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cites work

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

1 reference

12 December 2020

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

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Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population

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Identification of 12 novel mutations in the CFTR gene.

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The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

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12 December 2020

Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium

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Geneticists trace the DNA trail of the first Americans

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CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

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12 December 2020

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

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12 December 2020

Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families

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12 December 2020

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis

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12 December 2020

Detection and localization of single base changes by denaturing gradient gel electrophoresis

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Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

1 reference

12 December 2020

Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.

1 reference

12 December 2020

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

1 reference

12 December 2020

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

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12 December 2020

DNA sequencing with chain-terminating inhibitors

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12 December 2020

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations

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12 December 2020

Cystic fibrosis: molecular biology and therapeutic implications

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12 December 2020

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis

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12 December 2020

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

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12 December 2020

Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family

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12 December 2020

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

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12 December 2020

Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene.

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12 December 2020

Analysis of 14 cystic fibrosis mutations in five South European populations

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12 December 2020

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

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12 December 2020

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00206956

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20 May 2018

PubMed ID

7527370

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20 May 2018