Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome

Human Mutation

Volumn 7, Issue 4, 1996, Pages 361-363

  Isbrandt, Dirk ^a   Hopwood, John J ^b   Von Figura, Kurt ^a   Peters, Christoph ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MUTANT PROTEIN; POLYPEPTIDE;

ARTICLE; CASE REPORT; CHILD; DNA SEQUENCE; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; MISSENSE MUTATION; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; CODON, TERMINATOR; DNA PRIMERS; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS IV; OPEN READING FRAMES;

EID: 0029879999     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:4<361::AID-HUMU12>3.0.CO;2-0     Document Type: Article

References (16)

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