Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome

American Journal of Human Genetics

Volumn 60, Issue 1, 1997, Pages 48-56

  Heikkinen, Jari ^a   Toppinen, Tarja ^a   Yeowell, Heather ^b   Krieg, Thomas ^c   Steinmann, Beat ^d   Kivirikko, Kari I ^a   Myllylä, Raili ^a  

^a UNIVERSITY OF OULU   (Finland)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

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

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EHLERS DANLOS SYNDROME; ENZYME DEFICIENCY; EXON; FEMALE; GENE DUPLICATION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE REPEAT; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RNA PROCESSING;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; DINUCLEOTIDE REPEATS; DNA; EHLERS-DANLOS SYNDROME; EXONS; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; POLYMERASE CHAIN REACTION; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE;

EID: 0031026976     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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