A Complement Factor B Mutation in a Large Kindred with Atypical Hemolytic Uremic Syndrome

Journal of Clinical Immunology

Volumn 34, Issue 6, 2014, Pages 691-695

  Funato, Michinori ^a,b   Uemura, Osamu ^c   Ushijima, Katsumi ^d   Ohnishi, Hidenori ^a   Orii, Kenji ^a   Kato, Zenichiro ^a   Yamakawa, Satoshi ^c   Nagai, Takuhito ^c   Ohara, Osamu ^e,f   Kaneko, Hideo ^b   Kondo, Naomi ^a  

^a GIFU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NAGARA MEDICAL CENTER   (Japan)

^c AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

^d Yokkaichi Municipal Hospital   (Japan)

^e Institute of Physical and Chemical Research   (Japan)

^f KAZUSA DNA RESEARCH INSTITUTE   (Japan)

Author keywords

Atypical hemolytic uremic syndrome; complement alternative pathway; complement factor B; gain of function; large kindred

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT COMPONENT C3; PROTEIN BINDING; SCLEROPROTEIN; VWA1 PROTEIN, HUMAN;

ADULT; CHILD; COMPLEMENT ALTERNATIVE PATHWAY; DEFICIENCY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEMOLYTIC UREMIC SYNDROME; HUMAN; MALE; METABOLISM; MUTATION; PEDIGREE; YOUNG ADULT;

ADULT; ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHILD; COMPLEMENT C3; COMPLEMENT FACTOR B; COMPLEMENT PATHWAY, ALTERNATIVE; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PEDIGREE; PROTEIN BINDING; YOUNG ADULT;

EID: 84939894774     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0058-8     Document Type: Article

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