Complement mutations in diacylglycerol kinase-ɛ–associated atypical hemolytic uremic syndrome

Clinical Journal of the American Society of Nephrology

Volumn 9, Issue 9, 2014, Pages 1611-1619

  Chinchilla, Daniel Sánchez ^a,b   Pinto, Sheila ^a,b   Hoppe, Bernd ^c   Adragna, Marta ^d   Lopez, Laura ^d   Roldan, Maria Luisa Justa ^e   Peña, Antonia ^f   Trascasa, Margarita Lopez ^a,f   Sánchez Corral, Pilar ^b,f   De Córdoba, Santiago Rodríguez ^b  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITY OF BONN   (Germany)

^d HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^e HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^f HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT FACTOR H; DIACYLGLYCEROL KINASE; FIBRINOGEN; MEMBRANE COFACTOR PROTEIN; NEPHRITIC FACTOR; THROMBOMODULIN; COMPLEMENT; DIACYLGLYCEROL KINASE EPSILON, HUMAN;

ADOLESCENT; ARTICLE; CHILD; COPY NUMBER VARIATION; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC RISK; GENOTYPE; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOTE; HOMOZYGOTE; HUMAN; KIDNEY FAILURE; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PEDIGREE; PRESCHOOL CHILD; SCHOOL CHILD; GENETICS; MUTATION;

ADOLESCENT; ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHILD; CHILD, PRESCHOOL; COMPLEMENT SYSTEM PROTEINS; DIACYLGLYCEROL KINASE; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 84908170447     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.01640214     Document Type: Article

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