Literature DB >> 1438391

Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles.

J H Ding1, P Bross, B Z Yang, A K Iafolla, D S Millington, C R Roe, N Gregersen, Y T Chen.   

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Year:  1992        PMID： 1438391

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  3 in total

1.  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Authors:  J L Van Hove; W Zhang; S G Kahler; C R Roe; Y T Chen; N Terada; D H Chace; A K Iafolla; J H Ding; D S Millington
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

2.  Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling.

Authors:  A McConkie-Rosell; A K Iafolla
Journal:  J Genet Couns       Date:  1993-03       Impact factor: 2.537

3.  Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice.

Authors:  Ravi J Tolwani; Doug A Hamm; Liqun Tian; J Daniel Sharer; Jerry Vockley; Piero Rinaldo; Dietrich Matern; Trenton R Schoeb; Philip A Wood
Journal:  PLoS Genet       Date:  2005-08-19       Impact factor: 5.917
  3 in total

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