Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients

Journal of Medical Genetics

Volumn 52, Issue 11, 2015, Pages 749-753

  Edvardson, Shimon ^a   Gerhard, Frank ^b   Jalas, Chaim ^c   Lachmann, Jens ^b   Golan, Dafna ^d   Saada, Ann ^a   Shaag, Avraham ^a   Ungermann, Christian ^b   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b UNIVERSITY OF OSNABRÜCK   (Germany)

^c Bonei Olam   (United States)

^d MACCABI HEALTHCARE SERVICES   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; MEMBRANE RECEPTOR; PROTEIN; PROTEIN MUP1; UNCLASSIFIED DRUG; VESICULAR TRANSPORT PROTEIN; VPS11 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; ASHKENAZI JEW; CELL VACUOLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; ENDOSOME; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPOMYELINATION; MALE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN SYNTHESIS; SACCHAROMYCES CEREVISIAE; SCHOOL CHILD; SEIZURE; SPASTICITY; TRANSPORT ASSAY; VPS11 GENE; WHITE MATTER; CASE REPORT; DNA MUTATIONAL ANALYSIS; GENETICS; INFANT; JEW; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MYELIN SHEATH; PATHOLOGY; PEDIGREE; SYNDROME; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; ENDOSOMES; FEMALE; HUMANS; INFANT; JEWS; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MUTATION, MISSENSE; MYELIN SHEATH; PEDIGREE; SACCHAROMYCES CEREVISIAE; SYNDROME; VESICULAR TRANSPORT PROTEINS; YOUNG ADULT;

EID: 84954378852     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103239     Document Type: Article

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