Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.
Isbrandt
D
D
Universität Göttingen, Germany.
Hopwood
J J
JJ
von Figura
K
K
Peters
C
C
D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D018388:Codon, Terminator; D017931:DNA Primers; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D016366:Open Reading Frames
D018388:Codon, Terminator; D017931:DNA Primers