Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen

American Journal of Medical Genetics

Volumn 72, Issue 1, 1997, Pages 94-105

  Byers, Peter H ^a   Duvic, Madeleine ^b   Atkinson, Mary ^a   Robinow, Meinhard ^c,j   Smith, Lynne T ^a   Krane, Stephen M ^d   Greally, Marie T ^e,k   Ludman, Mark ^f   Matalon, Reuben ^g,l   Pauker, Susan ^h   Quanbeck, Deborah ⁱ   Schwarze, Ulrike ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^c Dayton Children's Hospital   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e EASTERN VIRGINIA MEDICAL SCHOOL   (United States)

^f DALHOUSIE UNIVERSITY   (Canada)

^g MIAMI CHILDREN'S HOSPITAL   (United States)

^h HARVARD PILGRIM HEALTH CARE   (United States)

ⁱ Shriners Hospital for Children   (United States)

^j Arabian Gulf University ^*  (United States)

^k ARABIAN GULF UNIVERSITY   (Bahrain)

^l Dept Pediatrics   (United States)

more..

Author keywords

Alternative splicing; Collagen; Congenital hip dislocation; Ehlers Danlos syndrome; Ehlers Danlos syndrome type VII; Exon deletion; Exon skipping; Procollagen

Indexed keywords

COLLAGEN TYPE 1;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL HIP DISLOCATION; DOMINANT INHERITANCE; EHLERS DANLOS SYNDROME; FEMALE; FRACTURE; GENE DELETION; GENE MUTATION; HUMAN; INFANT; JOINT INSTABILITY; MALE; PRIORITY JOURNAL;

ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COLLAGEN; DNA PRIMERS; EHLERS-DANLOS SYNDROME; EXONS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROCOLLAGEN; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 0030963648     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971003)72:1<94::AID-AJMG20>3.0.CO;2-O     Document Type: Article

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