Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G → T and the 711 + 1G → T mutations

Clinical Genetics

Volumn 51, Issue 3, 1997, Pages 214-216

  De Braekeleer, Marc ^a   Simard, Fernand ^b   Aubin, Gervais ^b  

^a UNIVERSITÉ DU QUÉBEC À CHICOUTIMI   (Canada)

^b NONE

Author keywords

Cystic fibrosis; French Canadian genotype phenotype; Mutation

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ARTICLE; CASE REPORT; CYSTIC FIBROSIS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GROWTH RETARDATION; HUMAN; HUMAN CELL; MALE; PANCREAS INSUFFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030932057     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02456.x     Document Type: Article

References (9)

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2. De Braekeleer M, Daigneault J, Aubin G, Simard F, Allard C, Fujiwara M, Morgan K. Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G→T mutations. Clin Genet 1995: 47: 110-111.
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6. The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994: 4: 167-177.
7. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in cystic fibrosis: analysis of seven common mutations. N Engl J Med 1993: 329: 1308-1313.
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9. Zielenski J, Bozon D, Markiewicz D, Aubin G, Simard F, Rommens JM, Tsui LC. Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G→T and 711 + 1G→T mutations. Hum Mol Genet 1993: 2: 683-687.