A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI

Mutation Research - Mutation Research Genomics

Volumn 432, Issue 1-2, 2000, Pages 33-37

  Pousi, Birgitta ^a   Heikkinen, Jari ^a   Schroter, Jukka ^a   Pope, Michael ^b   Myllyla, Raili ^a  

^a UNIVERSITY OF OULU   (Finland)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

Ehlers Danlos syndrome type VI; Lysyl hydroxylase; OMIM 225400

Indexed keywords

COLLAGEN; MESSENGER RNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; COLLAGEN METABOLISM; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; DNA SEQUENCE; EHLERS DANLOS SYNDROME; ENZYME DEFICIENCY; EXON; EYE DISEASE; GENE MUTATION; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; HUMAN CELL; KYPHOSCOLIOSIS; MUSCLE HYPOTONIA; PATIENT; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SKIN FIBROBLAST; STOP CODON;

BLOTTING, SOUTHERN; CODON, NONSENSE; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; EHLERS-DANLOS SYNDROME; FIBROBLASTS; GREAT BRITAIN; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; RNA SPLICING; RNA, MESSENGER;

EID: 0034144362     PISSN: 13835726     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5726(99)00012-6     Document Type: Article

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