Publication

Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT, Mutations of CTNS causing intermediate cystinosis. Mol Genet Metab67(4):283-93 1999
PubMed ID: 10444339

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM00907Female30 YR6motherCYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
GM00010Male12 FW166probandAPPARENTLY HEALTHY FETAL TISSUE