A compound heterozygote patient with ehlers-danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene

Human Mutation

Volumn 11, Issue 1, 1998, Pages 55-61

  Pousi, Birgitta ^a   Hautala, Timo ^a   Hyland, James C ^a,c   Schröter, Jukka ^a   Eckes, Beate ^b   Kivirikko, Kari I ^a   Myllylä, Raili ^a  

^a UNIVERSITY OF OULU   (Finland)

^b UNIVERSITY OF COLOGNE   (Germany)

^c THOMAS JEFFERSON UNIVERSITY HOSPITAL   (United States)

Author keywords

Compound heterozygote patient; Ehlers Danlos syndrome; First deletion mutation; First splicing defect; Lysyl hydroxylase gene

Indexed keywords

MESSENGER RNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CELL CULTURE; EHLERS DANLOS SYNDROME; ENZYMOLOGY; FIBROBLAST; GENE DELETION; GENETICS; HETEROZYGOTE; HUMAN; NUCLEOTIDE REPEAT; SKIN;

ALLELES; ALTERNATIVE SPLICING; CELLS, CULTURED; EHLERS-DANLOS SYNDROME; FIBROBLASTS; GENE DELETION; HETEROZYGOTE; HUMANS; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA, MESSENGER; SKIN;

EID: 0031605645     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:1<55::AID-HUMU9>3.0.CO;2-K     Document Type: Article

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