Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping

Clinical Genetics

Volumn 85, Issue 3, 2014, Pages 267-272

  Biancheri, Roberta ^a   Grossi, Serena ^b   Regis, Stefano ^b   Rossi, Andrea ^c   Corsolini, Fabio ^b   Rossi, Daniela Paola ^a   Cavalli, Pietro ^d   Severino, Mariasavina ^c   Filocamo, Mirella ^b  

^a Child Neurology and Psychiatry Unit   (Italy)

^b UOSD Centro di diagnostica genetica e biochimica delle malattie metaboliche   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d Servizio di Genetica   (Italy)

Author keywords

Magnetic resonance imaging; Molecular genetics; Pelizaeus Merzbacher disease

Indexed keywords

GENOMIC DNA; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG; PLP1 PROTEIN, HUMAN; RNA SPLICING;

ADULT; AGED; ARTICLE; BRAIN ATROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON SKIPPING; FEMALE; FIBROBLAST CULTURE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANCY; INTRON; ITALY; MALE; MENTAL DEFICIENCY; MIDDLE AGED; MOLECULAR BIOLOGY; MYELINATION; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PES EQUINOVARUS; POINT MUTATION; PRIORITY JOURNAL; QUADRIPLEGIA; RNA EXTRACTION; RNA SPLICING; SPASTIC PARAPLEGIA; SPASTIC PARAPLEGIA 2; SPASTIC TETRAPARESIS; VERY ELDERLY; WALKING DIFFICULTY; WHEELCHAIR; WHITE MATTER; X CHROMOSOME LINKED DISORDER; BRAIN; DNA MUTATIONAL ANALYSIS; EXON; GENETIC ASSOCIATION STUDY; GENETICS; MUTATION; PATHOLOGY; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; YOUNG ADULT;

ADULT; BRAIN; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; POINT MUTATION; RNA SPLICE SITES; YOUNG ADULT;

EID: 84893003219     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12154     Document Type: Article

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