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Volumn 109, Issue 4, 1997, Pages 383-396
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Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene
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Author keywords
Collagen disease; Dermal fibroblasts; Linkage; Molecular sequence data; mRNA degradation; Phenotype
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Indexed keywords
PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;
CASE REPORT;
EHLERS DANLOS SYNDROME;
EXON;
GENE DELETION;
HUMAN;
HUMAN TISSUE;
MALE;
NONSENSE MUTATION;
POLYMERASE CHAIN REACTION;
REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;
REVIEW;
SKIN FIBROBLAST;
ALLELES;
BASE SEQUENCE;
BLOTTING, SOUTHERN;
CELLS, CULTURED;
CHILD, PRESCHOOL;
DIAGNOSIS, DIFFERENTIAL;
DNA, COMPLEMENTARY;
EHLERS-DANLOS SYNDROME;
GENETIC SCREENING;
HUMANS;
MALE;
MOLECULAR SEQUENCE DATA;
MUTATION;
PEDIGREE;
POLYMERASE CHAIN REACTION;
PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE;
RNA, MESSENGER;
SENSITIVITY AND SPECIFICITY;
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EID: 0030877242
PISSN: 1081650X
EISSN: None
Source Type: Journal
DOI: None Document Type: Review |
Times cited : (23)
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References (63)
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