A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene

American Journal of Human Genetics

Volumn 83, Issue 4, 2008, Pages 495-503

  Salo, Antti M ^a   Cox, Helen ^b   Farndon, Peter ^b   Moss, Celia ^c   Grindulis, Helen ^d   Risteli, Maija ^a   Robins, Simon P ^e   Myllylä, Raili ^a  

^a UNIVERSITY OF OULU   (Finland)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d SANDWELL GENERAL HOSPITAL   (United Kingdom)

^e ROWETT RESEARCH INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 6; DISACCHARIDE; LYSYL HYDROXYLASE 3; MONOSACCHARIDE; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; COLLAGEN DISEASE; COLLAGEN SYNTHESIS; CONNECTIVE TISSUE DISEASE; FEMALE; FETUS; GENE MUTATION; GLYCOSYLATION; HETEROZYGOTE; HUMAN; HYDROXYLATION; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PROCESSING; RECESSIVE INHERITANCE;

ADOLESCENT; BASE SEQUENCE; COLLAGEN; CONNECTIVE TISSUE DISEASES; FAMILY HEALTH; FEMALE; GLYCOSYLATION; HETEROZYGOTE; HUMANS; MALE; MODELS, BIOLOGICAL; MUTATION; PHENOTYPE; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; SEQUENCE ANALYSIS, DNA;

ANIMALIA;

EID: 53049110420     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.09.004     Document Type: Article

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