Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.

Human mutation

Volumn 27, Issue 3, 2006, Pages 292-

  Montagna, Giorgia ^a   Teijido, Oscar ^a   Eymard Pierre, Eleonore ^a   Muraki, Koutarou ^a   Cohen, Bruce ^a   Loizzo, Annalivia ^a   Grosso, Pietro ^a   Tedeschi, Gioacchino ^a   Palacín, Manuel ^a   Boespflug Tanguy, Odile ^a   Bertini, Enrico ^a   Santorelli, Filippo M ^a   Estévez, Raúl ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MLC1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CELL MEMBRANE; CHILD; DEMYELINATING DISEASE; FEMALE; GENE EXPRESSION REGULATION; GENETIC VARIABILITY; GENETICS; HUMAN; INFANT; MALE; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OOCYTE; PRESCHOOL CHILD; SEQUENCE HOMOLOGY; XENOPUS;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL MEMBRANE; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION REGULATION; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; OOCYTES; SEQUENCE HOMOLOGY, AMINO ACID; VARIATION (GENETICS); XENOPUS;

EID: 33745694618     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9407     Document Type: Article

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