Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Grossi, Serena ^a   Regis, Stefano ^a   Biancheri, Roberta ^a   Mort, Matthew ^b   Lualdi, Susanna ^a   Bertini, Enrico ^c   Uziel, Graziella ^d   Boespflug Tanguy, Odile ^e,f   Simonati, Alessandro ^g   Corsolini, Fabio ^a   Demir, Ercan ^h   Marchiani, Valentina ⁱ   Percesepe, Antonio ^j   Stanzial, Franco ^k   Rossi, Andrea ^a   Vaurs Barrière, Catherine ^e   Cooper, David N ^b   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e INSERM   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g Neuropsychological Morphological and Motor Sciences Section of Neurology   (Italy)

^h GAZI UNIVERSITY   (Turkey)

ⁱ UNIVERSITY OF BOLOGNA   (Italy)

^j UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^k Servizio di Consulenza Genetica   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; EXTRAPYRAMIDAL SYMPTOM; GENE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; MYELIN DEFICIENCY; NORMAL HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; ONSET AGE; PERIPHERAL NEUROPATHY; PLP1 GENE; QUADRIPLEGIA; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; STRIDOR; ADOLESCENT; ADULT; CHILD; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; INFANT; PELIZAEUS MERZBACHER DISEASE; PRESCHOOL CHILD;

DNA; PLP1 PROTEIN, HUMAN; PROTEOLIPID PROTEIN;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA; GENE DUPLICATION; HUMANS; INFANT; MALE; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 79959230718     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-40     Document Type: Article

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