Literature DB >> 10399105

An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA.

T Ohura1, K Narisawa, K Tada, K Iinuma.   

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Year:  1999        PMID： 10399105     DOI： 10.1023/a:1005506819699

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.

Authors:  T Ohura; S Miyabayashi; K Narisawa; K Tada
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.

Authors:  M B Shapiro; P Senapathy
Journal:  Nucleic Acids Res       Date:  1987-09-11       Impact factor: 16.971
  2 in total
  1 in total

1.  Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Authors:  Niall P Keegan; Steve D Wilton; Sue Fletcher
Journal:  Front Genet       Date:  2022-01-24       Impact factor: 4.772
  1 in total

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