Evidence for a modifying pathway in SMA discordant families: Reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

Human Genetics

Volumn 114, Issue 1, 2003, Pages 11-21

  Helmken, Claudia ^a   Hofmann, Yvonne ^a   Schoenen, Frank ^a   Oprea, Gabriela ^a,b   Raschke, Heidrun ^a   Rudnik Schöneborn, Sabine ^c   Zerres, Klaus ^c   Wirth, Brunhilde ^a,b  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ACTIN; BETA TUBULIN; GEMIN 2; GEMIN 3; MESSENGER RNA; PROTEIN; PROTEIN P53; SURVIVAL MOTOR NEURON PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BIOGENESIS; CELL TRANSPORT; CHROMOSOME 5Q; CONTROLLED STUDY; EPSTEIN BARR VIRUS; EXON; FAMILY; FIBROBLAST; GENE MUTATION; GENETIC REGULATION; GENETIC TRANSCRIPTION; HEREDITARY SPINAL MUSCULAR ATROPHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; MOLECULAR DYNAMICS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SIBLING;

ADULT; AGE OF ONSET; BASE SEQUENCE; CELL LINE, TRANSFORMED; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; EXONS; FAMILY; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; RNA, MESSENGER; RNA-BINDING PROTEINS; SERINE ENDOPEPTIDASES;

HUMAN HERPESVIRUS 4;

EID: 0141834020     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-1025-2     Document Type: Article

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