Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

Human mutation

Volumn 25, Issue 3, 2005, Pages 321-322

  Hübner, Christian A ^a   Orth, Ulrike ^a   Senning, Arne ^a   Steglich, Cordula ^a   Kohlschütter, Alfried ^a   Korinthenberg, Rudolf ^a   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PLP1 PROTEIN, HUMAN; PROTEOLIPID PROTEIN; RAB PROTEIN; RAB9B PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; CHEMICAL STRUCTURE; CHEMISTRY; CONSENSUS SEQUENCE; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENETICS; HOSPITALIZATION; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN FOLDING; PROTEIN TERTIARY STRUCTURE; RNA SPLICING; STOP CODON;

AMINO ACID SUBSTITUTION; CODON, NONSENSE; CONSENSUS SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DUPLICATION; HUMANS; MALE; MEMBRANE PROTEINS; MODELS, MOLECULAR; MUTATION, MISSENSE; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; RAB GTP-BINDING PROTEINS; RNA SPLICE SITES; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

MLCS; MLOWN;

EID: 17044433267     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9314     Document Type: Article

References (0)