Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI

Molecular Genetics and Metabolism

Volumn 71, Issue 1-2, 2000, Pages 212-224

  Yeowell, Heather N ^a   Walker, Linda C ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Accelerated mRNA degradation; Alternate splicing pathways; Ancestral linkage; Autosomal recessive collagen disorder; Collagen crosslinking; Common mutations; Ehlers Danlos type VI; Lysyl hydroxylase deficiency; Lysyl hydroxylase1 gene mutations; Prenatal diagnosis

Indexed keywords

MESSENGER RNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ALTERNATIVE RNA SPLICING; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CROSS LINKING; EHLERS DANLOS SYNDROME; ENZYME DEFICIENCY; EXON; GENE DELETION; GENE DUPLICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RNA DEGRADATION; SHORT SURVEY;

EID: 0033812976     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3076     Document Type: Article

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