Human factor H deficiency: Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism

Journal of Biological Chemistry

Volumn 272, Issue 40, 1997, Pages 25168-25175

  Ault, Bettina H ^a,d   Schmidt, Bela Z ^a   Fowler, Natalie L ^a   Kashtan, Clifford E ^b   Ahmed, Alaa E ^c   Vogt, Beth A ^b,e   Colten, Harvey R ^a,f  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^c Specialty Laboratories   (United States)

^d RUSH MEDICAL COLLEGE   (United States)

^e CASE WESTERN RESERVE UNIVERSITY   (United States)

^f NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; COMPLEMENTARY DNA; CYSTEINE; CYTOKINE; GAMMA INTERFERON; TUMOR NECROSIS FACTOR ALPHA;

ARTICLE; CASE REPORT; CATABOLISM; CHILD; CHILDHOOD DISEASE; CHRONIC KIDNEY DISEASE; DNA SEQUENCE; GENE MUTATION; GENOME; HUMAN; HYPOCOMPLEMENTEMIA; MALE; MOLECULAR CLONING; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN SECRETION;

ADULT; BASE SEQUENCE; CALCIUM-BINDING PROTEINS; CALNEXIN; CELLS, CULTURED; COMPLEMENT FACTOR H; CONSENSUS SEQUENCE; CYSTEINE; DNA PRIMERS; FIBROBLASTS; HUMANS; POINT MUTATION; POLYMERASE CHAIN REACTION; SKIN; TRANSCRIPTION, GENETIC;

SUGARCANE RAMU STUNT DISEASE PHYTOPLASMA;

EID: 0030823285     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.272.40.25168     Document Type: Article

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