-transparent.png){kind=logo}
Three patients with a form of the Ehlers-Danlos syndrome, a generalized disorder of connective tissue, have detectable amounts of procollagen in extracts of their skin and tendon. The activity of procollagen peptidase, the enzyme that converts procollagen to collagen, is reduced in cultures of fibroblasts. The clinical manifestations of this syndrome may be related to impaired enzymatic conversion of procollagen to collagen. Cultures of skin fibroblasts from these patients have an increased rate of synthesis of collagenous protein (collagen and procollagen), possibly related to the inability of these cells to convert procollagen to collagen.
Related Publications
J R Lichtenstein, and
G R Martin, and
L D Kohn, and
P H Byers, and
V A McKusick
November 1984,
American journal of medical genetics,
J R Lichtenstein, and
G R Martin, and
L D Kohn, and
P H Byers, and
V A McKusick
July 1980,
Harefuah,
J R Lichtenstein, and
G R Martin, and
L D Kohn, and
P H Byers, and
V A McKusick
November 2001,
American journal of human genetics,
J R Lichtenstein, and
G R Martin, and
L D Kohn, and
P H Byers, and
V A McKusick
October 1973,
Acta haematologica,
J R Lichtenstein, and
G R Martin, and
L D Kohn, and
P H Byers, and
V A McKusick
November 1993,
Research in veterinary science,
J R Lichtenstein, and
G R Martin, and
L D Kohn, and
P H Byers, and
V A McKusick
August 1990,
Laboratory investigation; a journal of technical methods and pathology,
J R Lichtenstein, and
G R Martin, and
L D Kohn, and
P H Byers, and
V A McKusick
February 1979,
Laboratory investigation; a journal of technical methods and pathology,
J R Lichtenstein, and
G R Martin, and
L D Kohn, and
P H Byers, and
V A McKusick
May 1982,
Scandinavian journal of haematology,
J R Lichtenstein, and
G R Martin, and
L D Kohn, and
P H Byers, and
V A McKusick
January 1972,
Scandinavian journal of haematology,
J R Lichtenstein, and
G R Martin, and
L D Kohn, and
P H Byers, and
V A McKusick
March 2000,
Pediatric hematology and oncology,
