Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF [2]

American Journal of Medical Genetics

Volumn 102, Issue 4, 2001, Pages 389-390

  Wong, Lee Jun C ^a   Wang, Jianjun ^b   Michael Bowman, C ^b  

^a GEORGETOWN UNIVERSITY   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; CASE REPORT; CYSTIC FIBROSIS; DISEASE COURSE; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; HUMAN; LETTER; NEWBORN; PNEUMONIA; PRIORITY JOURNAL;

ALLELES; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMANS;

EID: 0035451273     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1480     Document Type: Letter

References (11)

1. A cystic fibrosis patient homozygous for the nonsense mutation R553X
2. Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene
3. Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene
4. Direct detection of heteroplasmic mutations in mitochondrial DNA
5. Two patients with cystic fibrosis nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease
6. Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X
7. Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease
8. Pathophysiology of gene-targeted mouse models for cystic fibrosis
9. Identification of novel mutations in Hispanic cystic fibrosis patients
10. Improvement of mutation detection in Hispanic cystic fibrosis patients with temporal temperature gradient gel electrophoresis
11. No CFTR: Are CF symptoms milder?