Publication

Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T, Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. Am J Hum Genet63(4):1015-24 1998
PubMed ID: 9758606

Records Return:  (4) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM02051Female7 YR33probandMANNOSIDOSIS, ALPHA B, LYSOSOMAL
GM02817Female6 YR probandMANNOSIDOSIS, ALPHA B, LYSOSOMAL
GM04518Female2 YR probandMANNOSIDOSIS, ALPHA B, LYSOSOMAL
GM00654Male7 YR probandMANNOSIDOSIS, ALPHA B, LYSOSOMAL