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Science 14 May 1965:
Vol. 148. no. 3672, pp. 957 - 958
DOI: 10.1126/science.148.3672.957
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Articles

Hereditary Angioneurotic Edema: Two Genetic Variants

Fred S. Rosen 1, Patricia Charache 1, Jack Pensky 2, and Virginia Donaldson 3

1 Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts
2 Institute of Pathology, Western Reserve University, Cleveland, Ohio
3 St. Vincent's Charity Hospital and Department of Medicine, Western Reserve University, Cleveland, Ohio

Serums of patients with hereditary angioneurotic edema lack inhibitory activity against the esterase derived from the first component of complement. In one group of patients this lack appears to result from failure to synthesize the esterase inhibitor of the first component of complement, whereas in another group of patients an abnormal, nonfunctional protein is synthesized.


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The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema.
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COOH-terminal Substitutions in the Serpin C1 Inhibitor That Cause Loop Overinsertion and Subsequent Multimerization.
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Hereditary Angioneurotic Edema First Observed as an Epiglottiditis.
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Methyltestosterone Therapy in Hereditary Angioedema.
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Ann Intern Med 86, 306-308
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Discoid Lupus Erythematosus and the Variant Form of Hereditary Angioedema.
D. L. Tuffanelli (1977)
Arch Dermatol 113, 374-375
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Hereditary Angioedema: the Clinical Syndrome and Its Management.
M. M. FRANK, J. A. GELFAND, and J. P. ATKINSON (1976)
Ann Intern Med 84, 580-593
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Angioneurotic Edema: A Review of Modern Concepts.
R. G. Michel, W. R. Hudson, and T. H. Pope (1975)
Arch Otolaryngol Head Neck Surg 101, 544-547
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Complement Component Analysis in Angioedema: Diagnostic Value.
G. W. Brasher, J. C. Starr, F. F. Hall, and A. M. Spiekerman (1975)
Arch Dermatol 111, 1140-1142
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Metachromatic Leukodystrophy (MLD) X. Immunological Studies of the Abnormal Sulfatase A.
D. Stumpf, E. Neuwelt, J. Austin, and P. Kohler (1971)
Arch Neurol 25, 427-431
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C1 Inhibitor: Evidence for Decreased Hepatic Synthesis in Hereditary Angioneurotic Edema.
A. M. Johnson, C. A. Alper, F. S. Rosen, and J. M. Craig (1971)
Science 173, 553-554
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Hereditary Angioneurotic Edema: Report of a Large Kindred with Defect in C'1 Esterase inhibitor and Review of the Literature.
J. J. DENNEHY (1970)
Ann Intern Med 73, 55-59
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Angioneurotic Edema and Deficiency of C'1 Esterase Inhibitor in a 61-Year-Old Woman.
S. E. THORVALDSSON, R. E. SEDLACK, G. J. GLEICH, and S. J. RUDDY (1969)
Ann Intern Med 71, 353-357
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Human Serum Inhibitor of C' 1 Esterase: Identity with a.-Neuraminoglycoprotein.
J. Pensky and H. G. Schwick (1969)
Science 163, 698-699
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Inherited C'2 Deficiency in Man: Lack of Immunochemically Detectable C'2 Protein in Serums from Deficient Individuals.
M. J. Polley (1968)
Science 161, 1149-1151
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Urticaria and Angioedema.
J. S. THOMPSON (1968)
Ann Intern Med 69, 361-380
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The Immune System, Immunoglobulins, and Some Disorders of the Lymphatic System.
C. G. CRADDOCK, E. R. ARQUILLA, W. H. HILDEMANN, W. A. SKOOG, R. S. SPARKES, and A. WINKELSTEIN (1966)
Ann Intern Med 64, 687-708
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