Connatal Pelizaeus-Merzbacher disease: A missense mutation in exon 4 of the proteolipid protein (PLP) gene

Journal of Human Genetics

Volumn 43, Issue 3, 1998, Pages 206-208

  Nagao, Masayoshi ^a,b   Kadowaki, Jun Ichi ^a,b  

^a National Otaru Hospital   (Japan)

^b SAPPORO MEDICAL UNIVERSITY   (Japan)

Author keywords

Dysmyelination; Laryngo tracheomalacia; Missense mutation; Pelizaeus Merzbacher disease; Proteolipid protein (PLP)

Indexed keywords

DNA BINDING PROTEIN; MYT1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; CASE REPORT; CHILD; EXON; FEMALE; GENETICS; HUMAN; JAPAN; MALE; NUCLEAR FAMILY; POINT MUTATION; SCHILDER DISEASE; SEX CHROMOSOME ABERRATION; X CHROMOSOME;

CHILD; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA-BINDING PROTEINS; EXONS; FEMALE; HUMANS; JAPAN; MALE; NUCLEAR FAMILY; POINT MUTATION; SEX CHROMOSOME ABERRATIONS; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0031603548     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050072     Document Type: Article

References (11)

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