A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda

American Journal of Human Genetics

Volumn 68, Issue 6, 2001, Pages 1398-1407

  Tiller, George E ^a   Hannig, Vickie L ^a   Dozier, Damon ^a   Carrel, Laura ^c   Trevarthen, Karrie C ^c   Wilcox, William R ^d   Mundlos, Stefan ^e   Haines, Jonathan L ^a,b   Gedeon, Agi K ^f   Gecz, Jozef ^f  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN SEDL; RNA; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; ARTICULAR CARTILAGE; CAENORHABDITIS ELEGANS; CHROMOSOME 19; CONTROLLED STUDY; DROSOPHILA MELANOGASTER; ENDOPLASMIC RETICULUM; GENE EXPRESSION REGULATION; GENETIC HETEROGENEITY; GOLGI COMPLEX; HISTOPATHOLOGY; HUMAN; HUMAN CELL; NONHUMAN; OSTEOARTHRITIS; PRIORITY JOURNAL; RNA SPLICING; SACCHAROMYCES CEREVISIAE; SPONDYLOEPIPHYSEAL DYSPLASIA; X CHROMOSOME LINKED DISORDER;

ANIMALIA; CAENORHABDITIS ELEGANS; DROSOPHILA MELANOGASTER; MELANOGASTER; SACCHAROMYCES CEREVISIAE;

EID: 0034981299     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320594     Document Type: Article

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