Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

American Journal of Human Genetics

Volumn 85, Issue 2, 2009, Pages 281-289

  Renbaum, Paul ^a   Kellerman, Efrat ^a,b   Jaron, Ranit ^a   Geiger, Dan ^c   Segel, Reeval ^a,b   Lee, Ming ^d   King, Mary Claire ^d   Levy Lahad, Ephrat ^a,b  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; GENOMIC DNA; NUCLEAR PROTEIN; PROTEIN P53; PROTEIN SERINE THREONINE KINASE; REGULATOR PROTEIN; UNCLASSIFIED DRUG; VACCINIA RELATED KINASE 1;

ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME 14; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; ELECTROMYOGRAPHY; FEMALE; GENE; GENE FREQUENCY; GENOTYPE; HEREDITARY SPINAL MUSCULAR ATROPHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; JEW; LINKAGE ANALYSIS; MALE; MUSCLE BIOPSY; NERVE CELL DIFFERENTIATION; NERVE CONDUCTION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PONTOCEREBELLAR HYPOPLASIA TYPE 1; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; SKIN BIOPSY; VACCINIA RELATED KINASE 1 GENE;

ALLELES; BRAIN DISEASES; CHROMOSOMES, HUMAN, PAIR 14; CLONING, MOLECULAR; CODON, NONSENSE; CONSANGUINITY; FEMALE; GENETIC MARKERS; HOMOZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; ISRAEL; JEWS; LINKAGE (GENETICS); LOD SCORE; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION; PEDIGREE; PENETRANCE; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES;

MAMMALIA;

EID: 68249087651     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.07.006     Document Type: Article

References (29)

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