A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease [3]

Clinical Genetics

Volumn 54, Issue 3, 1998, Pages 248-249

  Hodes, M E ^a   Aydanian, A ^a   Dlouhy, S R ^a   Whelan, D T ^a   Heshka, T ^a   Ronen, G ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

CASE REPORT; EXON; GENE MUTATION; HUMAN; LETTER; MALE; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL;

EID: 0031667004     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb04295.x     Document Type: Letter

References (8)