(Q33594380)

28 July 2017

title

Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. (English)

1 reference

28 July 2017

0 references

1 reference

Cheadle J

1

1 reference

28 July 2017

al-Jader L

series ordinal

2

1 reference

28 July 2017

Goodchild M

series ordinal

3

1 reference

28 July 2017

Meredith AL

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 August 1992

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

8

1 reference

28 July 2017

page(s)

597

1 reference

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

28 July 2017

cites work

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016073

A cystic fibrosis patient homozygous for the nonsense mutation R553X

21 June 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016073

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1518030

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1518030

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.29.8.597

1 reference

28 July 2017

1 reference

28 July 2017

1 reference