Comment on 'CFTR gene mutations in sarcoidosis'

European Journal of Human Genetics

Volumn 11, Issue 8, 2003, Pages 553-554

  Bombieri, Cristina ^a   Belpinati, Francesca ^a   Pignatti, Pier Franco ^a   Luisetti, Maurizio ^b  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

DENATURING GRADIENT GEL ELECTROPHORESIS; FAMILY; GENE FREQUENCY; GENETIC CODE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; LETTER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENESIS; PRIORITY JOURNAL; SARCOIDOSIS;

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; MUTATION; SARCOIDOSIS;

EID: 0041418221     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201003     Document Type: Letter

References (4)

1. Schurmann M, Albrecht M, Schwinger E, Stuhrmann M: CFTR gene mutations in sarcoidosis. EurJHum Genet 2002; 10: 729-732.
2. Bombieri C, Luisetti M, Belpinati F et al: Increased frequency of CFTR gene mutations in sarcoidosis: a case/control study. Eur J Hum Genet 2000; 8: 717-720.
3. Bombieri C, Benetazzo MG, Saccomani A et al: Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. Hum Genet 1998; 103: 718-722.
4. Bombieri C, Giorgi S, Carles S et al: A new approach to identify non-pathogenic mutations. An analysis of the Cystic Fibrosis Transmembrane Regulator gene in normal individuals. Hum Genet 2000; 106: 172-178.