Publication

Nilssen O, Berg T, Riise HM, Ramachandran U, Evjen G, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. Hum Mol Genet6(5):717-26 1997
PubMed ID: 9158146

Records Return:  (3) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM02051Female7 YR33probandMANNOSIDOSIS, ALPHA B, LYSOSOMAL
GM02049Male39 YR33fatherMANNOSIDOSIS, ALPHA B, LYSOSOMAL
GM02050Male11 YR33brotherMANNOSIDOSIS, ALPHA B, LYSOSOMAL