Literature DB >> 7524913

Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.

L Petreska1, S Koceva, A Gordova-Muratovska, R Nestorov, G D Efremov.   

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Year:  1994        PMID： 7524913     DOI： 10.1093/hmg/3.6.999

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  2 in total

1.  CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.

Authors:  Molly B Sheridan; Timothy W Hefferon; Nulang Wang; Christian Merlo; Carlos Milla; Drucy Borowitz; Eric D Green; Peter J Mogayzel; Garry R Cutting
Journal:  J Med Genet       Date:  2010-11-20       Impact factor: 6.318

2.  Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.

Authors:  V Brancolini; L Cremonesi; E Belloni; E Pappalardo; R Bordoni; M Seia; S Russo; R Padoan; A Giunta; M Ferrari
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132
  2 in total

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