Literature DB >> 10517260

A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis.

K Yoshimura, Y Wakazono, S Iizuka, N Morokawa, H Tada, Y Eto.   

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Year:  1999        PMID： 10517260     DOI： 10.1034/j.1399-0004.1999.560217.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.

Authors:  Iris Schrijver; Krista Rappahahn; Lynn Pique; Martin Kharrazi; Lee-Jun Wong
Journal:  J Mol Diagn       Date:  2008-06-13       Impact factor: 5.568

2.  Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.

Authors:  Shiho Kondo; Kotoyo Fujiki; Shigeru B H Ko; Akiko Yamamoto; Miyuki Nakakuki; Yasutomo Ito; Nikolay Shcheynikov; Motoji Kitagawa; Satoru Naruse; Hiroshi Ishiguro
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2015-06-18       Impact factor: 4.052

3.  Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems.

Authors:  S Tanriverdi; M Polat; H Onay
Journal:  Balkan J Med Genet       Date:  2022-06-05       Impact factor: 0.810
  3 in total

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