Ehlers-Danlos syndrome type VI: Lysyl hydroxylase deficiency due to a novel point mutation (W612C)

Archives of Dermatological Research

Volumn 290, Issue 4, 1998, Pages 181-186

  Brinckmann, Jürgen ^a   Açil, Yahya ^a   Feshchenko, Sergej ^b   Katzer, Eva ^a   Brenner, Rolf ^c   Kulozik, Andreas ^d   Kügler, Sebastian ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b Byeloruss Inst for Hered Diseases   (Belarus)

^c UNIVERSITY OF BONN   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Ehlers Danlos syndrome type VI; Lysyl hydroxylase; Mutation

Indexed keywords

CYSTEINE; HYDROXYLYSINE; MESSENGER RNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; TRYPTOPHAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONNECTIVE TISSUE DISEASE; EHLERS DANLOS SYNDROME; ELASTICITY; ENZYME DEFICIENCY; EYE DISEASE; FEMALE; HUMAN; JOINT HYPERMOBILITY; MALE; POINT MUTATION; PRIORITY JOURNAL; RESTRICTION MAPPING; SCOLIOSIS; SYMPTOM; VASCULAR DISEASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BLOTTING, NORTHERN; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EHLERS-DANLOS SYNDROME; FEMALE; GENOME; HETEROZYGOTE; HUMANS; MALE; MULTIGENE FAMILY; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; RNA, MESSENGER;

EID: 0031745210     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004030050287     Document Type: Article

References (28)

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