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 |
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Records Return:
(2)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM00907 | Female | 30 YR | 6 | mother | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE | GM |
GM00010 | Male | 12 FW | 166 | proband | APPARENTLY HEALTHY FETAL TISSUE | GM |
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