Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

Clinical Genetics

Volumn 73, Issue 3, 2008, Pages 279-287

  Regis, S ^a   Biancheri, R ^a   Bertini, E ^b   Burlina, A ^c   Lualdi, S ^a   Bianco, M G ^a   Devescovi, R ^d   Rossi, A ^a   Uziel, G ^e   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Gene duplication; Low copy repeats; Pelizaeus Merzbacher disease; PLP1; Real time PCR

Indexed keywords

PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; GENE DUPLICATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MALE; MUSCLE HYPOTONIA; NERVE CONDUCTION; NEUROPHYSIOLOGY; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; PYRAMIDAL SIGN; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION;

CHILD; CHILD, PRESCHOOL; GENE DOSAGE; GENE DUPLICATION; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE;

EID: 38949142969     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00961.x     Document Type: Article

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