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Article

Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.

Clinical genetics - 1 Jan 1998

Hojo S, Fujita J, Miyawaki H, Obayashi Y, Takahara J, Bartholomew D W

Abstract excerpt

This report is concerned with twins with cystic fibrosis (CF). They are of mixed parentage: Japanese mother and German father. One case is presented with meconium ileus as a neonate. The other patient did relatively well until the age of 6 years when she was first hospitalized and diagnosed with...

Topics

Adult
Alanine
Arginine
Asparagine
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
Genotype
Heterozygote
Histidine
Humans
Male
Point Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Severity of Illness Index

Source

Identifiers

PMID: 9550362
DOI: 10.1034/j.1399-0004.1998.531530110.x

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9550362-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.PMID 9550362Read ↗

[Two cases of cystic fibrosis in Japanese/German twins].Semantic proximity Read ↗

Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.Semantic proximity Read ↗

Compound heterozygosity for delta F508 and F508C: a cautionary note on the molecular diagnosis of cystic fibrosis.Semantic proximity Read ↗

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.Semantic proximity Read ↗

Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A).Semantic proximity Read ↗

Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis.Semantic proximity Read ↗

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.Semantic proximity Read ↗

Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.Semantic proximity Read ↗

Delayed identification of compound heterozygous (Phe508del/Arg117His) cystic fibrosis variants in a patient awaiting liver transplantation.Semantic proximity Read ↗

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Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation.Semantic proximity Read ↗

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