Published in J Med Genet on June 01, 1986
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO J (1987) 2.00
Frequent deletion and duplication of the steroid 21-hydroxylase genes. Am J Hum Genet (1986) 1.54
Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U S A (1988) 1.50
P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia. Proc Natl Acad Sci U S A (1987) 1.46
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U S A (1988) 1.40
Nonsense mutation causing steroid 21-hydroxylase deficiency. J Clin Invest (1988) 1.15
Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Invest (1989) 1.08
Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia. Am J Hum Genet (1988) 1.07
Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet (1991) 1.00
21-hydroxylase deficiency families with HLA identical affected and unaffected sibs. J Med Genet (1989) 0.94
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Polymorphic DNA region adjacent to the 5' end of the human insulin gene. Proc Natl Acad Sci U S A (1981) 12.86
The structural basis of the multiple forms of human complement component C4. Cell (1984) 6.68
A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B. Nature (1984) 3.27
Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Natl Acad Sci U S A (1985) 3.22
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HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci U S A (1984) 2.56
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Neonatal screening for congenital adrenal hyperplasia: a programme based on a novel direct radioimmunoassay for 17-hydroxyprogesterone in blood spots. J Endocrinol (1986) 1.38
HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency. Am J Hum Genet (1981) 1.35
Correlation between a DNA restriction fragment length polymorphism and C4A6 protein. Nature (1984) 0.99
The structural basis of the multiple forms of human complement component C4. Cell (1984) 6.68
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A critical role of natural immunoglobulin M in immediate defense against systemic bacterial infection. J Exp Med (1998) 3.32
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Two methods for assessing the risk-factor composition of the HIV-1 epidemic in heterosexual women: southeast England, 1988-1991. AIDS (1992) 2.32
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Complement facilitates early prion pathogenesis. Nat Med (2001) 2.30
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A comparison of the properties of two classes, C4A and C4B, of the human complement component C4. EMBO J (1984) 2.22
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Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region. EMBO J (1985) 2.09
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The purification and properties of the second component of human complement. Biochem J (1978) 2.03
Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants. J Clin Invest (1986) 2.00
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO J (1987) 2.00
Regulation of B lymphocyte responses to foreign and self-antigens by the CD19/CD21 complex. Annu Rev Immunol (2000) 1.95
Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. J Clin Endocrinol Metab (1996) 1.94
A critical role for complement in maintenance of self-tolerance. Immunity (1998) 1.90
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The fixation of complement and the activated first component (C1) of complement by complexes formed between antibody and divalent hapten. J Exp Med (1970) 1.90
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The N-terminal sequence of the heavy chain of rabbit immunoglobulin IgG. Biochem J (1966) 1.85
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The antibody binding site. Labelling of a specific antibody against the photo-precursor of an aryl nitrene. Biochem J (1972) 1.68
The partial sequence of two large peptides from the N-terminal half of heavy chains from normal rabbit immunoglobulin G. Biochem J (1968) 1.63
Sequence studies of the Fd section of the heavy chain of rabbit immunoglobulin G. Biochem J (1970) 1.62
The route of antigen entry determines the requirement for L-selectin during immune responses. J Exp Med (1996) 1.61
Dependence of germinal center B cells on expression of CD21/CD35 for survival. Science (1998) 1.59
Complement activation in factor D-deficient mice. Proc Natl Acad Sci U S A (2001) 1.59
The interchain disulfide bonds of a human pathological immunoglobulin. Biochemistry (1967) 1.58
Cloning of a human complement component C4 gene. Proc Natl Acad Sci U S A (1983) 1.56
A macrophage invasion mechanism of pathogenic mycobacteria. Science (1997) 1.55
Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity. EMBO J (1986) 1.54
Genotype and phenotype in hypochondroplasia. J Pediatr (1998) 1.53
Neutral endopeptidase modulation of septic shock. J Exp Med (1995) 1.53
Endotoxin shock in antibody-deficient mice: unraveling the role of natural antibody and complement in the clearance of lipopolysaccharide. J Immunol (1997) 1.52
The dichotomous size variation of human complement C4 genes is mediated by a novel family of endogenous retroviruses, which also establishes species-specific genomic patterns among Old World primates. Immunogenetics (1994) 1.52
Antibody response to a T-dependent antigen requires B cell expression of complement receptors. J Exp Med (1996) 1.52
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Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest (1995) 1.49
Surgical treatment of hyperinsulinaemic hypoglycaemia in infancy and childhood. Arch Dis Child (1992) 1.49
A short water deprivation test incorporating urinary arginine vasopressin estimations for the investigation of posterior pituitary function in children. Acta Endocrinol (Copenh) (1988) 1.48
Complement is essential for protection by an IgM and an IgG3 monoclonal antibody against experimental, hematogenously disseminated candidiasis. J Immunol (2001) 1.48
A reappraisal of the CHARGE association. J Med Genet (1988) 1.46
Partial sequence of human complement component factor B: novel type of serine protease. Proc Natl Acad Sci U S A (1980) 1.46
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The role of complement in inflammation and adaptive immunity. Immunol Rev (2001) 1.45
Contrasting plasma free amino acid patterns in elite athletes: association with fatigue and infection. Br J Sports Med (1998) 1.44
Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states. Clin Endocrinol (Oxf) (1997) 1.43
The urea cycle in the Rett syndrome. Brain Dev (1990) 1.41
Identification of olfactory dysfunction in carriers of X-linked Kallmann's syndrome. Clin Endocrinol (Oxf) (1994) 1.39
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Bilateral testicular tumours in congenital adrenal hyperplasia: a continuing diagnostic and therapeutic dilemma. Clin Endocrinol (Oxf) (1989) 1.38
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The 3-M syndrome. J Med Genet (1984) 1.37
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