DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.
BS Kerem, JA Buchanan, P Durie… - American journal of …, 1989 - ncbi.nlm.nih.gov
Patients with cystic fibrosis (CF) generally suffer from chronic obstructive lung disease,
pancreatic insufficiency (PI), and a number of other exocrine malfunctions. Approximately …
pancreatic insufficiency (PI), and a number of other exocrine malfunctions. Approximately …
Genetic determination of exocrine pancreatic function in cystic fibrosis.
P Kristidis, D Bozon, M Corey… - American journal of …, 1992 - ncbi.nlm.nih.gov
We showed elsewhere that the pancreatic function status of cystic fibrosis (CF) patients
could be correlated to mutations in the CF transmembrane conductance regulator (CFTR) …
could be correlated to mutations in the CF transmembrane conductance regulator (CFTR) …
[引用][C] Genotype‐phenotype correlations in cystic fibrosis
Cystic fibrosis (CF) is the most common inherited disease among Caucasians. It is caused
by defects in the CF transmembrane conductance regulator (CFTR) gene, which encodes a …
by defects in the CF transmembrane conductance regulator (CFTR) gene, which encodes a …
The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF508)
Abstract Background and Methods. Both the clinical manifestations of cystic fibrosis and the
genotypes of patients are heterogeneous, but the associations between the two are not …
genotypes of patients are heterogeneous, but the associations between the two are not …
Tracing the mutations in cystic fibrosis by means of closely linked DNA markers.
LC Tsui - American Journal of Human Genetics, 1989 - ncbi.nlm.nih.gov
Although the gene responsible for cystic fibrosis (CF) has yet to be identified, a great deal
has already been learned about the mutations of this autosomal reces-sive disorder. The …
has already been learned about the mutations of this autosomal reces-sive disorder. The …
Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial …
X Estivill, R Llevadot, J Giménez, V Nunes, T Casals… - Human genetics, 1995 - Springer
We present the genotype/phenotype correlation analysis for 16 cystic fibrosis (CF) patients
who carry mutation R334W. Current age and age of diagnosis was significantly higher in the …
who carry mutation R334W. Current age and age of diagnosis was significantly higher in the …
Pancreatic function and gene deletion F508 in cystic fibrosis.
G Borgo, G Mastella, P Gasparini… - Journal of medical …, 1990 - jmg.bmj.com
In view of the possible relation between pancreatic function and cystic fibrosis (CF) gene
mutations, a detailed study on Italian patients was performed. Seventy pancreatic insufficient …
mutations, a detailed study on Italian patients was performed. Seventy pancreatic insufficient …
Identification of the cystic fibrosis gene: genetic analysis
B Kerem, JM Rommens, JA Buchanan, D Markiewicz… - Science, 1989 - science.org
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific
deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …
deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis
C Durno, M Corey, J Zielenski, E Tullis, LC Tsui… - Gastroenterology, 2002 - Elsevier
Background & Aims: Pancreatitis is known to occur in some patients with cystic fibrosis (CF),
but the prevalence, natural history, and genotypic basis are unclear. We examined a well …
but the prevalence, natural history, and genotypic basis are unclear. We examined a well …
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations
V Brancolini, L Cremonesi, E Belloni, E Pappalardo… - Human genetics, 1995 - Springer
A cohort of 31 cystic fibrosis patients showing pancreatic sufficiency and bearing an
unidentified mutation on at least one chromosome was analyzed through denaturing …
unidentified mutation on at least one chromosome was analyzed through denaturing …