Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in Caucasians: The load of RCCX genetic diversity on major histocompatibility complex-associated disease

Journal of Experimental Medicine

Volumn 191, Issue 12, 2000, Pages 2183-2196

  Blanchong, Carol A ^a,b   Zhou, Bi ^a   Rupert, Kristi L ^a,b   Chung, Erwin K ^a,b   Jones, Karla N ^b   Sotos, Juan F ^b   Zipf, William B ^b   Rennebohm, Robert M ^b   Yu, C Yung ^a,b,c,d  

^a THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c OHIO STATE UNIVERSITY   (United States)

^d OHIO STATE UNIVERSITY   (United States)

Author keywords

Complement C4 deficiency; Congenital adrenal hyperplasia; Endogenous retrovirus; Gene dosage; Heterozygosity

Indexed keywords

COMPLEMENT COMPONENT C4A; COMPLEMENT COMPONENT C4B; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 3;

ADRENAL HYPERPLASIA; ARTICLE; BIODIVERSITY; COMPLEMENT DEFICIENCY; FEMALE; GENE DELETION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; IMMUNOCHEMISTRY; MAJOR HISTOCOMPATIBILITY COMPLEX; NORMAL HUMAN; PRIORITY JOURNAL; PROTEIN POLYMORPHISM; PSEUDOGENE;

ADRENAL HYPERPLASIA, CONGENITAL; CDC2-CDC28 KINASES; COMPLEMENT C4A; COMPLEMENT C4B; DIPLOIDY; ENDOGENOUS RETROVIRUSES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE CONVERSION; GENE DOSAGE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MAJOR HISTOCOMPATIBILITY COMPLEX; MUTATION; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; SEQUENCE DELETION; STEROID 21-HYDROXYLASE; TENASCIN; VARIATION (GENETICS);

EID: 0034686608     PISSN: 00221007     EISSN: None     Source Type: Journal    
DOI: 10.1084/jem.191.12.2183     Document Type: Article

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