A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene [3]

American Journal of Medical Genetics

Volumn 138 A, Issue 4, 2005, Pages 399-400

  Fujioka, Hirotaka ^a,b   Ariga, Tadashi ^a   Yoda, Minako ^c   Ohsaki, Masaya ^c   Horiuchi, Katsumi ^a   Otsu, Makoto ^a   Sugihara, Tsuneki ^a   Sakiyama, Yukio ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Bibai Rosai Hospital   (Japan)

^c National Hakodate Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3;

CASE REPORT; CLINICAL FEATURE; COMPLEMENT C3 DEFICIENCY; COMPLEMENT C3 GENE; COMPLEMENT DEFICIENCY; DNA EXTRACTION; EXON; GENE; GENE DELETION; GENE MUTATION; GENE REPLICATION; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HUMAN; LETTER; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PERIPHERAL BLOOD MONONUCLEAR CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SYMPTOMATOLOGY;

ADULT; BASE PAIRING; BASE SEQUENCE; CHILD; COMPLEMENT C3; FEMALE; GENE DELETION; HOMOZYGOTE; HUMANS; MALE;

EID: 27444434171     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30964     Document Type: Letter

References (12)

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