Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher- like syndrome

American Journal of Medical Genetics

Volumn 128 A, Issue 2, 2004, Pages 156-158

  Henneke, Marco ^a,b   Wehner, Lars Erik ^a   Hennies, Hans Christian ^b   Preuß, Natalie ^a   Gärtner, Jutta ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

Hypomyelination; Leukodystrophy; M6b gene; Pelizaeus Merzbacherdisease; PLP1 gene

Indexed keywords

GENE PRODUCT; M6B PROTEIN; MUTANT PROTEIN; MYELIN; PROTEOLIPID; PROTEOLIPID PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CHROMOSOME XP; CLINICAL ARTICLE; FEMALE; GENE; GENE DUPLICATION; GENE LOCATION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HYPOMYELINATION; INFANT; LEUKODYSTROPHY; M6B GENE; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; MYELINATION; NUCLEOTIDE SEQUENCE; OLIGODENDROGLIA; PELIZAEUS MERZBACHER DISEASE; PELIZAEUS MERZBACHER LIKE SYNDROME; PHENOTYPE; PLP1 GENE; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN PROTEIN INTERACTION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DEMYELINATING DISEASES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; LIPIDS; MALE; MEMBRANE GLYCOPROTEINS; MODELS, GENETIC; MUTATION; MYELIN PROTEOLIPID PROTEIN; NERVE TISSUE PROTEINS; OLIGODENDROGLIA; OLIGONUCLEOTIDES; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE; PROTEIN BINDING; SPHINGOLIPIDOSES; SYNDROME; TRANSFECTION;

EID: 4444363197     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30068     Document Type: Article

References (11)

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