Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Nature Genetics

Volumn 24, Issue 3, 2000, Pages 251-256

  Kaplan, Joshua M ^a   Kim, Sung Han ^a   North, Kathryn N ^d   Rennke, Helmut ^c   Correia, Lori Ann ^a   Tong, Hui Qi ^d   Mathis, Beverly J ^e   Rodríguez Pérez, José Carlos ^f   Allen, Philip G ^b   Beggs, Alan H ^d   Pollak, Martin R ^a  

^a Renal Division   (United States)

^b Hematology Division   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e OKLAHOMA STATE UNIVERSITY   (United States)

^f Hospital Nuestra Senora del Pino   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; ALPHA ACTININ;

ARTICLE; CONTROLLED STUDY; CYTOSKELETON; FOCAL GLOMERULOSCLEROSIS; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PRIORITY JOURNAL; PROTEIN BINDING; SEQUENCE ANALYSIS;

ACTININ; ACTINS; AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 19; CYTOSKELETON; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENETIC PREDISPOSITION TO DISEASE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0034051681     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/73456     Document Type: Article

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