Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

American Journal of Human Genetics

Volumn 68, Issue 4, 2001, Pages 831-838

  Leegwater, Peter A J ^a,b   Yuan, Bao Qiang ^a   Van der Steen, Jeffrey ^a,c   Mulders, Joyce ^a,c   Könst, Andrea A M ^b   Boor, P K Ilja ^a   Mejaski Bosnjak, Vlatka ^d   Van der Maarel, Silvère M ^e   Frants, Rune R ^e   Oudejans, Cees B M ^b   Schutgens, Ruud B H ^b   Pronk, Jan C ^a,c   Van der Knaap, Marjo S ^a  

^a Departments of Neurology   (Netherlands)

^b Hepatology and GIT   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Croatia   (Croatia)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MEMBRANE PROTEIN; PROTEIN MLC1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN CYST; CHROMOSOME 22Q; CONTROLLED STUDY; DETERIORATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MACROCEPHALY; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYST; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; SPASTICITY;

ATAXIA;

EID: 0035072651     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/319519     Document Type: Article

References (14)

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