Molecular characterisation of 10 Dutch properdin type I deficient families: Mutation analysis and X-inactivation studies

European Journal of Human Genetics

Volumn 8, Issue 7, 2000, Pages 513-518

  Van Den Bogaard, Ruud ^a   Fijen, Cees A P ^a   Schipper, Mariëtte G J ^a   De Galan, Louis ^a   Kuijper, Ed J ^a   Mannens, Marcel M A M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Meningococcal disease; Mutations; Properdin deficiency; X inactivation

Indexed keywords

PROPERDIN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COMPLEMENT ACTIVATION; EXON; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; IMMUNE DEFICIENCY; MALE; MISSENSE MUTATION; NETHERLANDS; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DEFICIENCY; PROTEIN SECRETION; STOP CODON; X CHROMOSOME INACTIVATION;

DNA; DNA MUTATIONAL ANALYSIS; DOSAGE COMPENSATION, GENETIC; EXONS; FEMALE; HUMANS; LYMPHOCYTES; MALE; MENINGITIS, MENINGOCOCCAL; MUTATION, MISSENSE; NETHERLANDS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROPERDIN; X CHROMOSOME;

EID: 0033939292     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200496     Document Type: Article

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