A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene

Molecular Genetics and Metabolism

Volumn 67, Issue 1, 1999, Pages 74-82

  Walker, Linda C ^a   Marini, Joan C ^b   Grange, Dorothy K ^c   Filie, Jane ^b   Yeowell, Heather N ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Autosomal recessive disorder; Collagen hydroxylation; Ehlers Danlos syndrome type VI; Homozygosity; Lysyl hydroxylase deficiency

Indexed keywords

COLLAGEN TYPE 1; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; EHLERS DANLOS SYNDROME; ELECTROPHORETIC MOBILITY; EXTRACHROMOSOMAL INHERITANCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN FIBROBLAST; STOP CODON;

EID: 0032813305     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2824     Document Type: Article

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