scholarly journals Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome.

1985 ◽  
Vol 44 (7) ◽  
pp. 431-433 ◽  
Author(s):  
P Wordsworth ◽  
D Ogilvie ◽  
R Smith ◽  
B Sykes
Keyword(s):  
Structural Gene ◽  
Type Ii ◽  
Ehlers Danlos Syndrome ◽  
Mutant Locus ◽  
Danlos Syndrome

Ehlers-Danlos syndrome Type II: Importance of recognition

1995 ◽  
Vol 36 (3) ◽  
pp. 153-155 ◽  
Author(s):  
Duncan G Stanford ◽  
Katherine E Georgouras
Keyword(s):  
Syndrome Type ◽  
Type Ii ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.

1998 ◽  
Vol 35 (10) ◽  
pp. 846-848 ◽  
Author(s):  
A J Richards ◽  
S Martin ◽  
A C Nicholls ◽  
J B Harrison ◽  
F M Pope ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Type Ii ◽  
Ehlers Danlos Syndrome ◽  
Single Base ◽  
Danlos Syndrome

scholarly journals Diseases of aberrant glycosylation.

1995 ◽  
Vol 42 (1) ◽  
pp. 1-10 ◽  
Author(s):  
J Kościelak
Keyword(s):  
Paroxysmal Nocturnal Hemoglobinuria ◽  
Leukocyte Adhesion ◽  
Type Ii ◽  
Cell Disease ◽  
Leukocyte Adhesion Deficiency ◽  
Ehlers Danlos Syndrome ◽  
Congenital Dyserythropoietic Anemia ◽  
Aberrant Glycosylation ◽  
Carbohydrate Deficient Glycoprotein Syndrome ◽  
Danlos Syndrome

Recently a defective glycosylation of glycoconjugates has been implicated in the pathogenesis of a number of heritable or acquired diseases of humans. Herein I discuss them under the name of diseases of aberrant glycosylation. These are: congenital dyserythropoietic anemia type II, carbohydrate-deficient glycoprotein syndrome, I-cell disease, galactosemia in subjects on galactose-free diet, variants of leukocyte adhesion deficiency, and of Ehlers-Danlos syndrome, paroxysmal nocturnal hemoglobinuria, and Tn syndrome. Regarding the present views on the function of glycoconjugates it is probably significant that in most instances defective or missing glycoproteins (or proteoglycans) but not glycosphingolipids, are probably involved in the pathogenesis of these diseases.

Cutis laxa complicating Ehlers-Danlos syndrome type II

1996 ◽  
Vol 21 (2) ◽  
pp. 135-137 ◽  
Author(s):  
L.S. OSTLERE ◽  
F.M. POPE ◽  
C.A. HOLDEN
Keyword(s):  
Cutis Laxa ◽  
Syndrome Type ◽  
Type Ii ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals EHLERS-DANLOS SYNDROME-TYPE II

1999 ◽  
Vol 55 (3) ◽  
pp. 245-246
Author(s):  
PLK DESYLVA ◽  
KM SHAH ◽  
S BHATTACHARYA
Keyword(s):  
Syndrome Type ◽  
Type Ii ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome
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