Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations

European Journal of Human Genetics

Volumn 8, Issue 11, 2000, Pages 837-845

  Cailloux, F ^a   Gauthier Barichard, F ^a   Mimault, C ^a   Isabelle, V ^a   Courtois, V ^a   Giraud, G ^a   Dastugue, B ^a   Boespflug Tanguy, O ^a  

^a UNIVERSITÉ CLERMONT AUVERGNE   (France)

Author keywords

Molecular diagnosis; Myelin disorder; Pelizaeus Merzbacher disease (PMD); Proteolipid protein gene (PLP); Spastic paraplegia (SPG); X chromosome

Indexed keywords

ISOPROTEIN; MUTANT PROTEIN; MYELIN; PROTEOLIPID PROTEIN;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CENTRAL NERVOUS SYSTEM; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY STUDY; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC STABILITY; GENOTYPE; HUMAN; MALE; MOTOR DYSFUNCTION; MYELINATION; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPASTIC PARAPLEGIA; X CHROMOSOME ABERRATION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; DEMYELINATING DISEASES; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 0033678145     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200537     Document Type: Article

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