PMID: 12891373

Bombieri C, Belpinati F, Pignatti PF, Luisetti M
Comment on 'CFTR gene mutations in sarcoidosis'.
Eur J Hum Genet. 2003 Aug;11(8):553-4., [PubMed]
Sentences
No. Mutations Sentence Comment
2 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 12891373:2:25
status: NEW
view ABCC7 p.Arg75Gln details
 In their study, mutation R75Q was investigated first, because it was detected in 3/26 patients of our published series: the mutation was present in 7/63 families, but it did not segregate with the disease. Login to comment 9 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 12891373:9:169
status: NEW
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 In conclusion, our cumulative case control data obtained by a complete gene screening of 53 Italian sarcoidosis patients are in accordance with the segregation study of R75Q and CF-causing mutations in German families, and support the conclusion that CFTR gene mutations do not appear to have a major influence on the pathogenesis of sarcoidosis. Login to comment