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Three Single Base Mutations in Type III Procollagen Gene That Prevent Correct RNA Splicing in Variants of Ehlers-Danlos Syndrome IV
Annals of the New York Academy of Sciences
◽
10.1111/j.1749-6632.1990.tb17989.x
◽
1990
◽
Vol 580
(1 Structure, Mo)
◽
pp. 554-555
Author(s):
MIJIN ZHAO
◽
SIRPA KONTUSAARI
◽
HELENA KUIVANIEMI
◽
GERARD TROMP
◽
CAROLYN SABOL
◽
...
Keyword(s):
Rna Splicing
◽
Ehlers Danlos Syndrome
◽
Single Base
◽
Type Iii
◽
Type Iii Procollagen
◽
Danlos Syndrome
Download Full-text
Related Documents
Cited By
References
A Single Base Mutation That Substitutes Serine for Glycine 790 of the α 1 (III) Chain of Type III Procollagen Exposes an Arginine and Causes Ehlers-Danlos Syndrome IV
Journal of Biological Chemistry
◽
10.1016/s0021-9258(18)94192-x
◽
1989
◽
Vol 264
(3)
◽
pp. 1349-1352
Author(s):
G Tromp
◽
H Kuivaniemi
◽
H Shikata
◽
D J Prockop
Keyword(s):
Ehlers Danlos Syndrome
◽
Single Base
◽
Type Iii
◽
Type Iii Procollagen
◽
Danlos Syndrome
Download Full-text
Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.
Journal of Biological Chemistry
◽
10.1016/s0021-9258(19)38508-4
◽
1990
◽
Vol 265
(20)
◽
pp. 12067-12074
◽
Cited By ~ 3
Author(s):
H Kuivaniemi
◽
S Kontusaari
◽
G Tromp
◽
M J Zhao
◽
C Sabol
◽
...
Keyword(s):
Rna Splicing
◽
Exon Skipping
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Type Iii Procollagen
◽
Danlos Syndrome
Download Full-text
Inheritance of an RNA splicing mutation (G + 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV
Journal of Vascular Surgery
◽
10.1016/0741-5214(91)90398-e
◽
1991
◽
Vol 13
(5)
◽
pp. 774
Author(s):
Joseph R. Durham
Keyword(s):
Rna Splicing
◽
Aortic Aneurysms
◽
Syndrome Type
◽
Splicing Mutation
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Type Iv
◽
Type Iii Procollagen
◽
Arterial Aneurysms
◽
Danlos Syndrome
Download Full-text
Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV
Human Mutation
◽
10.1002/humu.1380020106
◽
1993
◽
Vol 2
(1)
◽
pp. 28-36
◽
Cited By ~ 9
Author(s):
Yuli Wu
◽
Helena Kuivaniemi
◽
Gerard Tromp
◽
Deike Strobel
◽
Anne M. Romanic
◽
...
Keyword(s):
Temperature Sensitivity
◽
Rna Splicing
◽
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Type Iv
◽
Type Iii Procollagen
◽
Aberrant Rna
◽
Danlos Syndrome
Download Full-text
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV
Journal of Biological Chemistry
◽
10.1016/s0021-9258(19)47303-1
◽
1989
◽
Vol 264
(32)
◽
pp. 19313-19317
Author(s):
G Tromp
◽
H Kuivaniemi
◽
C Stolle
◽
F M Pope
◽
D J Prockop
Keyword(s):
Ehlers Danlos Syndrome
◽
Single Base
◽
Type Iii
◽
Type Iii Procollagen
◽
Danlos Syndrome
Download Full-text
Single Base Mutation in the Type III Procollagen Gene That Converts the Codon for Glycine 883 to Aspartate in a Proband with Mild Symptoms of Ehlers-Danlos Syndrome IV
Annals of the New York Academy of Sciences
◽
10.1111/j.1749-6632.1990.tb17991.x
◽
1990
◽
Vol 580
(1 Structure, Mo)
◽
pp. 558-559
◽
Cited By ~ 1
Author(s):
GERARD TROMP
◽
HELENA KUIVANIEMI
◽
CATHERINE STOLLE
◽
F. MICHAEL POPE
◽
DARWIN J. PROCKOP
Keyword(s):
Ehlers Danlos Syndrome
◽
Single Base
◽
Type Iii
◽
Type Iii Procollagen
◽
Danlos Syndrome
Download Full-text
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation
Human Genetics
◽
10.1007/bf00194313
◽
1992
◽
Vol 89
(4)
◽
Cited By ~ 22
Author(s):
A.J. Richards
◽
P.N. Ward
◽
P. Narcisi
◽
A.C. Nicholls
◽
J.C. Lloyd
◽
...
Keyword(s):
Glutamic Acid
◽
Family Member
◽
Type Iii Collagen
◽
Syndrome Type
◽
Unaffected Family Member
◽
Ehlers Danlos Syndrome
◽
Single Base
◽
Type Iii
◽
Type Iv
◽
Danlos Syndrome
Download Full-text
Phenotypic Overlap between Familial Aneurysms and Ehlers-Danlos Syndrome Type IV Resulting from a Type III Procollagen Gene Mutation
Annals of the New York Academy of Sciences
◽
10.1111/j.1749-6632.1996.tb33336.x
◽
1996
◽
Vol 800
(1 The Abdominal)
◽
pp. 294-298
◽
Cited By ~ 1
Author(s):
DAVID W. ANDERSON
◽
SMITA THAKKER-VARIA
◽
CATHERINE A. STOLLE
Keyword(s):
Gene Mutation
◽
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Type Iv
◽
Type Iii Procollagen
◽
Danlos Syndrome
◽
Familial Aneurysms
Download Full-text
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV
Human Mutation
◽
10.1002/(sici)1098-1004(1997)9:1<62::aid-humu11>3.0.co;2-n
◽
1997
◽
Vol 9
(1)
◽
pp. 62-63
◽
Cited By ~ 7
Author(s):
David W. Anderson
◽
Smita Thakker-Varia
◽
Gerard Tromp
◽
Helena Kuivaniemi
◽
Catherine A. Stolle
Keyword(s):
Thermal Stability
◽
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Type Iv
◽
Type Iii Procollagen
◽
Danlos Syndrome
◽
Thermal Stability Of
Download Full-text
Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: Correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule
Biochemical and Biophysical Research Communications
◽
10.1016/0006-291x(88)90497-4
◽
1988
◽
Vol 150
(1)
◽
pp. 140-147
◽
Cited By ~ 31
Author(s):
Andrea Superti-Furga
◽
Beat Steinmann
Keyword(s):
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Type Iv
◽
Type Iii Procollagen
◽
Danlos Syndrome
◽
Reduced Temperature
◽
Helical Region
Download Full-text
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