(Q43132721)

14 November 2017

Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy (English)

1 reference

14 November 2017

0 references

1 reference

Beaudet AL

1

1 reference

14 November 2017

Perciaccante RG

series ordinal

2

1 reference

14 November 2017

Cutting GR

series ordinal

3

1 reference

14 November 2017

language of work or name

English

0 references

publication date

1 June 1991

1 reference

American Journal of Human Genetics

14 November 2017

1 reference

14 November 2017

48

1 reference

14 November 2017

6

1 reference

14 November 2017

1213

1 reference

Uniparental disomy as a mechanism for human genetic disease

14 November 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683113

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

25 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683113

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

25 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683113

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

25 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2035541

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

14 November 2017

PubMed publication ID

2035541

1 reference