A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

Human Genetics

Volumn 97, Issue 3, 1996, Pages 337-339

  Sistermans, Erik A ^a   De Wijs, Ilse J ^a   De Coo, René F M ^a   Smit, Leo M E ^b   Menko, Fred H ^b   Van Oost, Bernard A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL DEATH; DISEASE SEVERITY; ENDOPLASMIC RETICULUM; HUMAN; HYPOTHESIS; MALE; MYELIN DEFICIENCY; NETHERLANDS; OLIGODENDROGLIA; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; START CODON; X CHROMOSOME LINKAGE;

EID: 0030020210     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02185767     Document Type: Article

References (8)

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2. Gow A, Friedrich VL Jr, Lazzarini RA (1994) Many natural occurring mutations of myelin proteolipid protein impair its intracellular transport. J Neurosci Res 37:574-583
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7. 223→Pro in the proteolipid protein, and prenatal diagnosis. Am J Hum Genet 51:871-878
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