A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. J Med Genet 2000;37:215-218.Wang J, Bowman MC, Hsu E, Wertz K, Wong LJ. 2000. A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. ...
Moreover, also familial HDL deficiency may be caused by mutations in ABCA1 gene. ATP-binding cassette transporter A1 (ABCA1) gene mutations in a patient with Tangier disease, who presented an uncommon clinical history, and in his family were found and characterized. He was found to be ...
Analysis of the CFTR gene of this patient revealed compound heterozygous mutations in exon 11 (1742 delAC) and intron 9 (1525-18 GtoA) of the CFTR gene. 展开 关键词: cystic fibrosis CFTR gene hereditary disease molecular diagnosis DOI: 10.1620/tjem.187.323 被引量: 30 年份: 1999 ...
1997a). A carrier frequency of 2.9% is similar to that of another mild autosomal recessive mutation, the IVS8-5T splice-site mutation in the CFTR gene; approximately twice as high as the carrier frequency of the most frequent severe autosomal recessive mutation in The Netherlands, the CFTRΔ...
This article has been updatedAbstract Gene therapy is a potentially curative medicine for many currently untreatable diseases, and recombinant adeno-associated virus (rAAV) is the most successful gene delivery vehicle for in vivo applications1,2,3. However, rAAV-based gene therapy suffers from ...
Patient specific iPSCs allow in vitro modeling of human genetic diseases and drug screening. Infants with homozygous SFTPB121ins2 mutation develop neonatal respiratory distress. The dermal fibroblasts from patients were reprogrammed to iPSC line and then differentiated to AEC2s, showing decreased SFTPB...
To explore the health risk of living near permitted composting sites (PCSs) on disease severity in children and adults with cystic fibrosis (CF) across the UK. A semi-individual cross-sectional study was used to examine the risk of disease severity
To identify known pathogenic and likely pathogenic variants from these variants, we selected those annotated as “Pathogenic” or “Likely_pathogenic” in ClinVar and at the same time as “DM” or “DM?” in human gene mutation database (HGMD), leveraging the independent annotation of these ...
in the CFTR gene in cis of a frameshift mutation Victoria Viart1,2, Marie Des Georges1,3, Mireille Claustres1,2,3 and Magali Taulan*,1,2 In monogenic diseases, the presence of several sequence variations in the same allele may complicate our understanding of genotype–phenotype relationships...
grade mucinous ovarian carcinoma with mural nodules of anaplastic carcinoma had been found on biopsy. Additionally, an umbilical Sister Mary Joseph nodule signalled advanced metastatic condition. The in-patient underwent primary debulking surgery and was known for adjuvant chemotherapy. High-quality ...