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Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.

作者信息

De Braekeleer M, Allard C, Leblanc J P, Simard F, Aubin G

出版信息

J Med Genet. 1997 Sep;34(9):788-9. doi: 10.1136/jmg.34.9.788.

DOI:10.1136/jmg.34.9.788
PMID:9321772
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051073/
Abstract
摘要

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本文引用的文献

1
A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux.
Clin Genet. 1996 Sep;50(3):149-51. doi: 10.1111/j.1399-0004.1996.tb02370.x.
2
Genealogy and geographical distribution of CFTR mutations in Saguenay Lac-Saint-Jean (Quebec, Canada).加拿大魁北克省萨格奈-圣让湖区囊性纤维化跨膜传导调节因子（CFTR）突变的谱系与地理分布
Ann Hum Biol. 1996 Sep-Oct;23(5):345-52. doi: 10.1080/03014469600004592.
3
Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations.
Hum Genet. 1996 Sep;98(3):304-9. doi: 10.1007/s004390050211.
4
Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G-->T mutations.
Clin Genet. 1995 Feb;47(2):110-1. doi: 10.1111/j.1399-0004.1995.tb03939.x.
5
Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.两名囊性纤维化（CF）患者，一名为621+1G>T剪接突变纯合子，另一名为1898+1G>A剪接突变纯合子。
J Med Genet. 1995 Feb;32(2):158. doi: 10.1136/jmg.32.2.158.
6
Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada).加拿大魁北克省萨格奈-圣让湖区囊性纤维化的遗传流行病学
Clin Genet. 1991 Oct;40(4):298-303. doi: 10.1111/j.1399-0004.1991.tb03099.x.
7
Incidence of cystic fibrosis in Saguenay-Lac-St.-Jean (Quebec, Canada).加拿大魁北克省萨格奈-圣让湖区囊性纤维化的发病率。
Hum Biol. 1992 Feb;64(1):115-9.
8
Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.法裔加拿大人中的囊性纤维化突变：在囊性纤维化发病率较高的魁北克人群中，三种囊性纤维化跨膜传导调节因子（CFTR）突变相对常见。
Am J Med Genet. 1992 Feb 1;42(3):360-4. doi: 10.1002/ajmg.1320420322.
9
Genetic determination of exocrine pancreatic function in cystic fibrosis.囊性纤维化中外分泌胰腺功能的遗传决定因素
Am J Hum Genet. 1992 Jun;50(6):1178-84.