PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1

Neurogenetics

Volumn 7, Issue 1, 2006, Pages 31-37

  Combes, Patricia ^a   Bonnet Dupeyron, Marie Noelle ^a   Gauthier Barichard, Fernande ^a   Schiffmann, Raphael ^b   Bertini, Enrico ^c   Rodriguez, Diana ^d   Armour, John A L ^e   Boespflug Tanguy, Odile ^a   Vaurs Barrière, Catherine ^a  

^a INSERM   (France)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

Gene quantification; GPM6B; MAPH; PLP1; PMD

Indexed keywords

PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE NUMBER; GENE REARRANGEMENT; GENETIC REGULATION; GPM6B GENE; HUMAN; HYBRIDIZATION; LEUKODYSTROPHY; MAJOR CLINICAL STUDY; MALE; MULTIPLEX AMPLIFIABLE PROBE HYBRIDIZATION; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FAMILY; RELIABILITY;

EID: 33644652434     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-005-0021-1     Document Type: Article

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