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Ehlers-Danlos Syndrome Type IV and a Novel Mutation of the Type III Procollagen Gene as a Cause of Abdominal Apoplexy
Mayo Clinic Proceedings
◽
10.4065/77.8.861
◽
2002
◽
Vol 77
(8)
◽
pp. 861-863
◽
Cited By ~ 11
Author(s):
Imran Hassan
◽
Todd E. Rasmussen
◽
Ulrike Schwarze
◽
Peter S. Rose
◽
David A.H. Whiteman
◽
...
Keyword(s):
Novel Mutation
◽
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Type Iv
◽
Type Iii Procollagen
◽
Danlos Syndrome
Download Full-text
Related Documents
Cited By
References
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
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV
Human Mutation
◽
10.1002/humu.1380050213
◽
1995
◽
Vol 5
(2)
◽
pp. 179-181
◽
Cited By ~ 3
Author(s):
Gerard Tromp
◽
Anne De Paepe
◽
Lieve Nuytinck
◽
Swarna Madhatheri
◽
Helena Kuivaniemi
Keyword(s):
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Type Iv
◽
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
Ehlers-Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen
American Journal of Medical Genetics
◽
10.1002/ajmg.1320340113
◽
1989
◽
Vol 34
(1)
◽
pp. 68-71
◽
Cited By ~ 17
Author(s):
Beat Steinmann
◽
Andrea Superti-Furga
◽
Helen I. Joller-Jemelka
◽
Giuseppe Cetta
◽
Peter H. Byers
Keyword(s):
Serum Levels
◽
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Amino Terminal
◽
Type Iv
◽
Type Iii Procollagen
◽
Danlos Syndrome
◽
Low Serum
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
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.
Journal of Biological Chemistry
◽
10.1016/s0021-9258(18)68776-9
◽
1988
◽
Vol 263
(13)
◽
pp. 6226-6232
Author(s):
A Superti-Furga
◽
E Gugler
◽
R Gitzelmann
◽
B Steinmann
Keyword(s):
Structure Stability
◽
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Type Iv
◽
Type Iii Procollagen
◽
Danlos Syndrome
◽
Exon Deletion
Download Full-text
Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers–Danlos syndrome type IV
Human Molecular Genetics
◽
10.1093/hmg/3.3.511
◽
1994
◽
Vol 3
(3)
◽
pp. 511-512
◽
Cited By ~ 2
Author(s):
Swama L. Madhatheri
◽
Gerard Tromp
◽
Karl-Henrik Gustavson
◽
Helena Kulvanlemi
Keyword(s):
Glutamic Acid
◽
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Helical Domain
◽
Type Iv
◽
Type Iii Procollagen
◽
Variable Phenotype
◽
Triple Helical Domain
◽
Danlos Syndrome
Download Full-text
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen
Human Genetics
◽
10.1007/bf00278783
◽
1986
◽
Vol 74
(1)
◽
Cited By ~ 47
Author(s):
P. Tsipouras
◽
P.H. Byers
◽
R.C. Schwartz
◽
Mon-Li Chu
◽
Dominique Weil
◽
...
Keyword(s):
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type Iii
◽
Type Iv
◽
Type Iii Procollagen
◽
Danlos Syndrome
Download Full-text
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