Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

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Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

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2017 nî lūn-bûn

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2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

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name

Spectrum of CFTR gene mutation ...... eport of the p.H609R mutation.

@en

Spectrum of CFTR gene mutation ...... eport of the p.H609R mutation.

@nl

type

Item

label

Spectrum of CFTR gene mutation ...... eport of the p.H609R mutation.

@en

Spectrum of CFTR gene mutation ...... eport of the p.H609R mutation.

@nl

prefLabel

Spectrum of CFTR gene mutation ...... eport of the p.H609R mutation.

@en

Spectrum of CFTR gene mutation ...... eport of the p.H609R mutation.

@nl

P1476

Spectrum of CFTR gene mutation ...... report of the p.H609R mutation

@en

P2093

Claudio Maldonado

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Juan Mejía

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Lilian Salinas

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Santiago J Aguirre

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Sofía Flores

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P2860

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Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis.

Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran.

Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.

A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.

CFTR H609R mutation in Ecuadorian patients with cystic fibrosis.

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scholarly article

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10.1002/MGG3.337

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Sofía C Ortiz

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2017-10-11T00:00:00Z

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29178639

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P921

cystic fibrosis

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5702561

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