Published in Mol Cell Probes on June 01, 1998
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Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res (2001) 1.62
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A cystic fibrosis patient homozygous for the nonsense mutation R553X. J Med Genet (1991) 1.41
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet (1997) 1.38
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Phenylketonuria mutation in southern Europeans. Lancet (1991) 0.93
The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D. Ann Hematol (2001) 0.90
A frequent polymorphism in the coding exon of the human cannabinoid receptor (CNR1) gene. Mol Cell Probes (1999) 0.90
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Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia. J Clin Endocrinol Metab (1998) 0.85
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Alternative splicing in the first nucleotide binding fold of CFTR. Hum Mol Genet (1993) 0.85
Identification and clinical presentation of beta thalassaemia mutations in the eastern region of Saudi Arabia. J Med Genet (1999) 0.84
Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. J Med Genet (1997) 0.84
Role of the novel tryptophan hydroxylase-2 gene in Tourette syndrome. Mol Psychiatry (2007) 0.83
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. Clin Genet (2008) 0.83
CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. J Med Genet (1993) 0.82
Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients. Hum Genet (1990) 0.82
Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population. Hum Genet (1990) 0.82
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. Am J Hum Genet (1998) 0.81
A frequent polymorphism of the gene mutated in ataxia telangiectasia. Mol Cell Probes (1997) 0.81
Aortic dissecting aneurysms--histopathological findings. Forensic Sci Int (2011) 0.80
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation. Hum Mutat (1995) 0.79
The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy. Clin Genet (1991) 0.79
Prenatal diagnosis of the Rhesus D fetal blood type on amniotic fluid in daily practice. Arch Gynecol Obstet (2007) 0.79
Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis. Klin Padiatr (2010) 0.79
Evaluation of the role of CFTR in alcohol related pancreatic disease. Gut (2001) 0.78
Geographic distribution and origin of CFTR mutations in Germany. Hum Genet (1996) 0.78
A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. Hum Genet (1992) 0.78
Vascular endothelial growth factor A polymorphism and risk of Kaposi's sarcoma herpesvirus viremia in kidney allograft recipients. Transpl Infect Dis (2014) 0.77
Genetic influences in the formation of nasal polyps. Lancet (1991) 0.77
BRCA1 expression is not affected by the intronic 12 bp duplication. J Med Genet (1999) 0.77
Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families. Hum Genet (1990) 0.76
Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria. Pediatr Nephrol (2000) 0.76
Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis. Hum Mutat (1998) 0.76
Genetic knowledge among participants of a German pilot study on hemochromatosis screening. Clin Genet (2006) 0.75
Severity of disease in cystic fibrosis. Lancet (1995) 0.75
Frequency of the delta-F508 mutation and flanking marker haplotypes at the cystic fibrosis locus from 167 Czech families. Adv Exp Med Biol (1991) 0.75
Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient. Hum Mutat (2000) 0.75
Hereditary hemorrhagic telangiectasia: A Case Report. Saudi Med J (1999) 0.75
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. Hum Mutat (1999) 0.75
Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection. Hum Genet (1995) 0.75
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Analysis of microsatellite DNA using a non-radioactive method: blotting from polyacrylamide gel to nylon membrane using a gel dryer with subsequent hybridization to digoxigenin-labelled (dCdA)8 oligonucleotide probes. Mol Cell Probes (1994) 0.75
Missense variation of the CFTR gene codon 507. Hum Mutat (1992) 0.75