A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers- Danlos syndrome type VI

DNA and Cell Biology

Volumn 17, Issue 2, 1998, Pages 117-123

  Pajunen, L ^a   Suokas, M ^a   Hautala, T ^a   Kellokumpu, S ^a   Tebbe, B ^b   Kivirikko, K I ^a   Myllyla, R ^a  

^a UNIVERSITY OF OULU   (Finland)

^b FREIE UNIVERSITÄT BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; NUCLEOTIDE; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; RNA; THYMIDINE;

ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; ENZYME ACTIVITY; EXON; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; MUTATION; NORTHERN BLOTTING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA METABOLISM; SOUTHERN BLOTTING;

EID: 0031940853     PISSN: 10445498     EISSN: None     Source Type: Journal    
DOI: 10.1089/dna.1998.17.117     Document Type: Article

References (3)

1. ARMSTRONG, L.C., and LAST, J.A. (1995). Rat lysyl hydroxylase: molecular cloning, mRNA distribution and expression in a baculovirus system. Biochim. Biophys. Acta 1264, 93-102.
2. BRIGHTON, P. (1993). The Ehlers-Danlos syndrome. In McKusick's Heritable Disorders of Connective Tissue. P. Beighton, ed. (Mosby-Year Book, St. Louis) pp. 189-251.
3. BELGRADER, P., and MAQUAT, L.E. (1994). Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping. Mol. Cell Biol. 14, 6326-6336.