Publication

Mononen I, Heisterkamp N, Kaartinen V, Mononen T, Williams JC, Groffen J, Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene. J Biol Chem267:3196-9 1992
PubMed ID: 1737774

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM05372Female53 YR722probandHUMAN ERYTHROLEUKEMIC CELL LINES
GM03560Male10 YR probandASPARTYLGLUCOSAMINURIA