A translocation interrupts the COL5A1 gene in a patient with Ehlers- Danlos syndrome and hypomelanosis of Ito

Nature Genetics

Volumn 13, Issue 3, 1996, Pages 361-365

  Toriello, H V ^a   Glover, T W ^a   Takahara, K ^a   Byers, P H ^a   Miller, D E ^a   Higgins, J V ^a   Greenspan, D S ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 3; COLLAGEN TYPE 5; DNA; MESSENGER RNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME TRANSLOCATION; CYTOGENETICS; EHLERS DANLOS SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; HUMAN; INCONTINENTIA PIGMENTI; NORTHERN BLOTTING; OPEN READING FRAME; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY; SOUTHERN BLOTTING;

BASE SEQUENCE; BLOTTING, NORTHERN; CHILD; CHROMOSOMES, HUMAN, PAIR 9; COLLAGEN; EHLERS-DANLOS SYNDROME; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PIGMENTATION DISORDERS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TRANSLOCATION, GENETIC; X CHROMOSOME;

EID: 0029946543     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0796-361     Document Type: Article

References (0)