A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency

Journal of Human Genetics

Volumn 44, Issue 3, 1999, Pages 215-218

  Horiuchi, Takahiko ^a   Ferrer, Joana M ^b   Serra, Pau ^b   Matamoros, Nüria ^b   Löpez Trascasa, Margarita ^c   Hashimura, Chinami ^a   Niho, Yoshiyuki ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Complement component 7; Deficiency; Nonsense mutation

Indexed keywords

COMPLEMENT COMPONENT C7; COMPLEMENT MEMBRANE ATTACK COMPLEX; GLUTAMIC ACID;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; COMPLEMENT DEFICIENCY; CONTROLLED STUDY; EXON; FEMALE; HUMAN; HUMAN CELL; MONONUCLEAR CELL; NEISSERIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RECURRENT INFECTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN;

ADULT; COMPLEMENT C7; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SPAIN;

EID: 0032896404     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050146     Document Type: Article

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