Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease

Neurology

Volumn 46, Issue 4, 1996, Pages 1102-1107

  Seeman, P J V ^a   Finckh, U ^a   Hoppner J ^b   Lakner, V ^c   Liebisch, I ^c   Grau, G ^d   Rolfs, A ^a,b,d  

^a FREIE UNIVERSITÄT BERLIN   (Germany)

^b Neurologische Abteilung   (Germany)

^c Innere Abteilung   (Germany)

^d UNIVERSITY OF ROSTOCK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE;

ADULT; ARTICLE; CASE REPORT; GAUCHER DISEASE; GENE AMPLIFICATION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; JEW; MALE; MISSENSE MUTATION; MYOCLONUS EPILEPSY; PREVALENCE; PRIORITY JOURNAL;

EID: 0029917235     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.46.4.1102     Document Type: Article

References (26)

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