The glucocerebrosidase D409H mutation in Gaucher disease

Biochemical and Molecular Medicine

Volumn 59, Issue 2, 1996, Pages 125-133

  Pasmanik Chor, Metsada ^a   Laadan, Sharon ^a   Elroy Stein, Orna ^a   Zimran, Ari ^b   Abrahamov, Ayala ^b   Gatt, Shimon ^c   Horowitz, Mia ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c HEBREW UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; SPHINGOLIPID;

APRAXIA; ARTICLE; ENZYME ACTIVITY; ENZYME ASSAY; GAUCHER DISEASE; HOMOZYGOSITY; HUMAN; HUMAN CELL; LIPIDOSIS; OPHTHALMOPLEGIA; PHENOTYPE; PROTEIN STABILITY; SKIN FIBROBLAST; VALVULAR HEART DISEASE;

EID: 0030459410     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1996.0077     Document Type: Article

References (31)

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