A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

Neurogenetics

Volumn 8, Issue 1, 2007, Pages 57-60

  Salviati, Leonardo ^a   Trevisson, Eva ^a   Baldoin, Maria Cristina ^a   Toldo, Irene ^a   Sartori, Stefano ^a   Calderone, Milena ^b   Tenconi, Romano ^a   Laverda, AnnaMaria ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

Autosomal recessive; Connexin 46.6; Differential diagnosis; Pelizaeus Merzbacher disease; PLP1

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DEMYELINATING DISEASE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PELIZAEUS MERZBACHER DISEASE; PELIZAEUS MERZBACHER LIKE DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

BASE SEQUENCE; CHILD, PRESCHOOL; CONNEXINS; DNA; DNA PRIMERS; FEMALE; GENES, RECESSIVE; HUMANS; MOLECULAR SEQUENCE DATA; NUCLEIC ACID CONFORMATION; PELIZAEUS-MERZBACHER DISEASE; SEQUENCE DELETION;

EID: 33845664068     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-006-0065-x     Document Type: Article

References (11)

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