Publication

Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP, The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res463(3):309-26 2000
PubMed ID: 11018746

Records Return:  (6) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM01622Female19 YR83probandPORPHYRIA, ACUTE INTERMITTENT
GM06804Male16 YR72probandLESCH-NYHAN SYNDROME; LNS
GM03467Male5 DA probandLESCH-NYHAN SYNDROME; LNS
GM20392Male23 YR probandLESCH-NYHAN SYNDROME; LNS
GM20396Male1 MO probandLESCH-NYHAN SYNDROME; LNS
GM20397Male  probandLESCH-NYHAN SYNDROME; LNS