A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease

Human Mutation

Volumn 9, Issue 5, 1997, Pages 475-476

  Kawanishi, C ^a   Osaka, H ^a   Owa, K ^a   Inoue, K ^a   Miyakawa, T ^a   Onishi, H ^a   Yamada, Y ^a   Suzuki, K ^a   Kimura, S ^a   Kosaka, K ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

HETERODUPLEX; PROTEOLIPID PROTEIN;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DNA SEQUENCE; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PELIZAEUS MERZBACHER DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME RECESSIVE DISORDER;

EID: 0030957559     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1997)9:5<475::aid-humu19>3.0.co;2-%23     Document Type: Article

References (6)