VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)

Journal of Medical Genetics

Volumn 51, Issue 5, 2014, Pages 303-308

  Feinstein, Miora ^a   Flusser, Hagit ^a   Tally, Lerman Sagie ^b   Ben Zeev, Bruria ^c   Lev, Dorit ^b   Agamy, Orly ^a   Cohen, Idan ^a   Kadir, Rotem ^a   Sivan, Sara ^a   Leshinsky Silver, Esther ^a   Markus, Barak ^b   Birk, Ohad S ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b WOLFSON MEDICAL CENTER   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CD63 ANTIGEN; CELL PROTEIN; COMPLEMENTARY DNA; GENOMIC DNA; GOLGI ASSOCIATED RETROGRADE PROTEIN; MESSENGER RNA; UNCLASSIFIED DRUG; LRRC32 PROTEIN, HUMAN; MEMBRANE PROTEIN; VESICULAR TRANSPORT PROTEIN; VPS53 PROTEIN, HUMAN;

ALLELE; AMPLICON; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN ATROPHY; CHROMOSOME 17P; CONTROLLED STUDY; CORPUS CALLOSUM; DECELERATION; ENDOSOME; EXOME; EXON; FIBROBLAST; FIBROBLAST CULTURE; FOLLOW UP; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GOLGI COMPLEX; HETEROZYGOSITY; HETEROZYGOUS MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; INTRON; JEW; LINKAGE ANALYSIS; LYMPHOBLASTOID CELL; LYMPHOBLASTOID CELL LINE; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NEUROIMAGING; NONSENSE MEDIATED MRNA DECAY; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPOROSIS; PRIORITY JOURNAL; PROGRESSIVE CEREBELLO CEREBRAL ATROPHY TYPE 2; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR RETARDATION; QUADRIPLEGIA; QUANTITATIVE ANALYSIS; RESTRICTION MAPPING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BIOPSY; SLEEP DISORDER; SPASTICITY; STOP CODON; TONIC CLONIC SEIZURE; WILD TYPE; ADOLESCENT; ADULT; ATROPHY; CEREBELLUM; CHROMOSOME MAP; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE; YOUNG ADULT;

ADOLESCENT; ADULT; ATROPHY; CEREBELLUM; CHILD, PRESCHOOL; CHROMOSOME MAPPING; FEMALE; GENES, RECESSIVE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; VESICULAR TRANSPORT PROTEINS; YOUNG ADULT;

EID: 84899481523     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101823     Document Type: Article

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