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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 pulmonary aspergillosis. They have been receiving standard therapies for CF including digestive enzymes, vitamins and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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

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