Literature DB >> 8504313

A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.

B S Andresen1, S Kølvraa, P Bross, L Bolund, D Curtis, H Eiberg, Z Zhang, D P Kelly, A W Strauss, N Gregersen.   

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Year:  1993        PMID： 8504313     DOI： 10.1093/hmg/2.4.488

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


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  4 in total

1.  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.

Authors:  B S Andresen; P Bross; I Knudsen; V Winter; S Kølvraa; L Bolund; N Gregersen
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

2.  Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

Authors:  B S Andresen; S F Dobrowolski; L O'Reilly; J Muenzer; S E McCandless; D M Frazier; S Udvari; P Bross; I Knudsen; R Banas; D H Chace; P Engel; E W Naylor; N Gregersen
Journal:  Am J Hum Genet       Date:  2001-05-08       Impact factor: 11.025

3.  Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

Authors:  N Gregersen; V Winter; S Lyonnet; J M Saudubray; U Wendel; T G Jensen; B S Andresen; S Kølvraa; W Lehnert; L Bolund
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

Authors:  B S Andresen; T G Jensen; P Bross; I Knudsen; V Winter; S Kølvraa; L Bolund; J H Ding; Y T Chen; J L Van Hove
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025
  4 in total

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