Human ehlers-danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

American Journal of Human Genetics

Volumn 65, Issue 2, 1999, Pages 308-317

  Colige, Alain ^a,h   Sieron, Aleksander L ^b   Li, Shi Wu ^b   Schwarze, Ulrike ^c   Petty, Elizabeth ^d   Wertelecki, Wladimir ^e   Wilcox, William ^f   Krakow, Deborah ^f   Cohn, Daniel H ^f   Reardon, W ^g   Byers, Peter H ^c   Lapière, Charles M ^a   Prockop, Darwin J ^b   Nusgens, Betty V ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF SOUTH ALABAMA   (United States)

^f CEDARS SINAI MEDICAL CENTER   (United States)

^g Gt Ormond St Hospital for Children   (United States)

^h UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PROCOLLAGEN N PROTEINASE;

AMINO ACID SEQUENCE; ANIMAL CELL; ANIMAL MODEL; ARTICLE; CASE REPORT; CATTLE DISEASE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; ENZYME ACTIVE SITE; GENE AMPLIFICATION; GENE DELETION; GENE ISOLATION; GENE MUTATION; HUMAN; HUMAN CELL; NONHUMAN; PRIORITY JOURNAL;

ANIMALIA; BOS TAURUS; BOVINAE;

EID: 0033358540     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302504     Document Type: Article

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