A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation

Jonathan Green, Suzanne Drury, Christopher Boustred, Mehmet Tekman, Horia Stanescu, Robert Kleta, Nicholas Lench, Lyn S. Chitty, Richard H. Scott

    Research output: Contribution to journal › Article › peer-review

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    Biochemistry, Genetics and Molecular Biology