Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

M.L. Raff; W.J. Craigen; L.T. Smith; D.R. Keene; P.H. Byers

doi:10.1007/s004399900198

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

Human Genetics ◽

10.1007/s004399900198 ◽

2000 ◽

Vol 106 (1) ◽

pp. 19-28

Author(s):

M.L. Raff ◽

W.J. Craigen ◽

L.T. Smith ◽

D.R. Keene ◽

P.H. Byers

Keyword(s):

Gene Duplication ◽

Osteogenesis Imperfecta ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Col1a2 Gene ◽

Danlos Syndrome

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Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

Human Genetics ◽

10.1007/s004390051004 ◽

2000 ◽

Vol 106 (1) ◽

pp. 19-28 ◽

Cited By ~ 32

Author(s):

M.L. Raff ◽

W.J. Craigen ◽

L.T. Smith ◽

D.R. Keene ◽

P.H. Byers

Keyword(s):

Gene Duplication ◽

Osteogenesis Imperfecta ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Col1a2 Gene ◽

Danlos Syndrome

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The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

Journal of Medical Genetics ◽

10.1136/jmg.31.4.306 ◽

1994 ◽

Vol 31 (4) ◽

pp. 306-311 ◽

Cited By ~ 22

Author(s):

A J Carr ◽

A A Chiodo ◽

J M Hilton ◽

C W Chow ◽

A Hockey ◽

...

Keyword(s):

Clinical Features ◽

Splice Acceptor Site ◽

Base Substitution ◽

Acceptor Site ◽

Syndrome Type ◽

Splice Acceptor ◽

Ehlers Danlos Syndrome ◽

Col1a2 Gene ◽

Danlos Syndrome

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Null-alleles of collagen genes in osteogenesis imperfecta and Ehlers-Danlos syndrome type IV

Matrix Biology ◽

10.1016/0945-053x(94)90106-6 ◽

1994 ◽

Vol 14 (5) ◽

pp. 387

Author(s):

Gerard Pals ◽

Jolanda M.F. Keek ◽

Marian A. Muijs

Keyword(s):

Osteogenesis Imperfecta ◽

Null Alleles ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iv ◽

Collagen Genes ◽

Danlos Syndrome

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Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)67778-1 ◽

1991 ◽

Vol 266 (8) ◽

pp. 5244-5248

Author(s):

H Vissing ◽

M D'Alessio ◽

B Lee ◽

F Ramirez ◽

P H Byers ◽

...

Keyword(s):

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iv ◽

Danlos Syndrome ◽

Procollagen Iii

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Ehlers-Danlos syndrome type VII: phenotype and genotype

Archives of Dermatological Research ◽

10.1007/bf00371566 ◽

1994 ◽

Vol 286 (8) ◽

pp. 425-428 ◽

Cited By ~ 12

Author(s):

H. W. Lehmann ◽

S. Mundlos ◽

A. Winterpacht ◽

R. E. Brenner ◽

B. Zabel ◽

...

Keyword(s):

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Danlos Syndrome

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A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(17)39183-4 ◽

1985 ◽

Vol 260 (20) ◽

pp. 11322-11329 ◽

Cited By ~ 13

Author(s):

D R Eyre ◽

F D Shapiro ◽

J F Aldridge

Keyword(s):

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Danlos Syndrome

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Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)49266-6 ◽

1987 ◽

Vol 262 (34) ◽

pp. 16376-16385 ◽

Cited By ~ 4

Author(s):

MK Wirtz ◽

RW Glanville ◽

B Steinmann ◽

VH Rao ◽

DW Hollister

Keyword(s):

Amino Acids ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Danlos Syndrome

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Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)50393-3 ◽

1992 ◽

Vol 267 (13) ◽

pp. 9093-9100

Author(s):

R.B. Watson ◽

G.A. Wallis ◽

D.F. Holmes ◽

D Viljoen ◽

P.H. Byers ◽

...

Keyword(s):

Cross Section ◽

Type I ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type I Procollagen ◽

Danlos Syndrome ◽

Incomplete Cleavage

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In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)39327-5 ◽

1990 ◽

Vol 265 (11) ◽

pp. 6312-6317 ◽

Cited By ~ 2

Author(s):

M K Wirtz ◽

D R Keene ◽

H Hori ◽

R W Glanville ◽

B Steinmann ◽

...

Keyword(s):

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Amino Terminal ◽

Danlos Syndrome

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Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC)

Journal of Oral Pathology and Medicine ◽

10.1034/j.1600-0714.2003.00170.x ◽

2003 ◽

Vol 32 (9) ◽

pp. 568-570 ◽

Cited By ~ 18

Author(s):

P.J. De Coster ◽

F. Malfait ◽

L.C. Martens ◽

A. De Paepe

Keyword(s):

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Danlos Syndrome

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