scholarly journals 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

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

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

1993 ◽  
Vol 2 (1) ◽  
pp. 28-36 ◽  
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

Phenotypic Overlap between Familial Aneurysms and Ehlers-Danlos Syndrome Type IV Resulting from a Type III Procollagen Gene Mutation

1996 ◽  
Vol 800 (1 The Abdominal) ◽  
pp. 294-298 ◽  
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

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

1997 ◽  
Vol 9 (1) ◽  
pp. 62-63 ◽  
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

Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV

1995 ◽  
Vol 5 (2) ◽  
pp. 179-181 ◽  
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

Ehlers-Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen

1989 ◽  
Vol 34 (1) ◽  
pp. 68-71 ◽  
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

scholarly journals Ehlers-Danlos Syndrome Type IV and a Novel Mutation of the Type III Procollagen Gene as a Cause of Abdominal Apoplexy

2002 ◽  
Vol 77 (8) ◽  
pp. 861-863 ◽  
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

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

1986 ◽  
Vol 74 (1) ◽  
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
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