Publication

Kudo M, Brem MS, Canfield WM, Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase alpha / beta -Subunits Precursor Gene. Am J Hum Genet78(3):451-63 2006
PubMed ID: 16465621

Records Return:  (27) Show
 
12
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM03392Female13 YR610sisterMUCOLIPIDOSIS III, COMPLEMENTATION GROUP C
GM02558Female9 YR501sisterMUCOLIPIDOSIS IIIA
GM02559Female7 YR501probandMUCOLIPIDOSIS IIIA
GM02660Female23 YR469parentMUCOLIPIDOSIS II; ML2; ML II
GM02687Male26 YR469parentMUCOLIPIDOSIS II; ML2; ML II
GM02274Female 38motherMUCOLIPIDOSIS II; ML2; ML II
GM02273Male2 YR38probandMUCOLIPIDOSIS II; ML2; ML II
GM02014Female18 YR36motherMUCOLIPIDOSIS II; ML2; ML II
GM02013Male2 WK36probandMUCOLIPIDOSIS II; ML2; ML II
GM03066Female23 FW34probandMUCOLIPIDOSIS II; ML2; ML II
GM00080Female16 YR34motherMUCOLIPIDOSIS II; ML2; ML II
GM00081Male23 YR34fatherMUCOLIPIDOSIS II; ML2; ML II
GM02046Female25 YR1909motherMUCOLIPIDOSIS II; ML2; ML II
GM03112Female21 FW1909probandMUCOLIPIDOSIS II; ML2; ML II
GM02047Male26 YR1909fatherMUCOLIPIDOSIS II; ML2; ML II
GM01590Female 1908motherMUCOLIPIDOSIS II; ML2; ML II
GM01586Male5 WK1908probandMUCOLIPIDOSIS II; ML2; ML II
GM01589Male 1908fatherMUCOLIPIDOSIS II; ML2; ML II
GM07256Female51 YR1012motherMUCOLIPIDOSIS IIIA
GM01494Female16 YR1012probandMUCOLIPIDOSIS IIIA