Homozygous splice mutation in CWF19L1 in a turkish family with recessive ataxia syndrome

Neurology

Volumn 83, Issue 23, 2014, Pages 2175-2182

  Burns, Randi ^a   Majczenko, Karen ^a   Xu, Jishu ^a   Peng, Weiping ^a   Yapici, Zuhal ^b   Dowling, James J ^a,b,c,d   Li, Jun Z ^a   Burmeister, Margit ^a  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b Istanbul University   (United States)

^c Hospital for Sick Children   (United States)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEXED WITH CDC5 PROTEIN 19 LIKE 1; MESSENGER RNA; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; CWF19-LIKE 1, CELL CYCLE CONTROL (S. POMBE), HUMAN; RNA SPLICING;

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; EXOME; GENE EXPRESSION; GENE MUTATION; GENETIC LINKAGE; HEREDITARY ATAXIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; NONHUMAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; TURKISH CITIZEN; ZEBRA FISH; ATAXIA; CASE REPORT; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HOMOZYGOTE; MUTATION; RECESSIVE GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TURKEY;

ATAXIA; CELL CYCLE PROTEINS; GENES, RECESSIVE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HOMOZYGOTE; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; TURKEY;

EID: 84925937041     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001053     Document Type: Article

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