Publication

Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE, New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. Am J Hum Genet38:149-58 1986
PubMed ID: 3004207

Records Return:  (4) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM01416Female27 YR370probandXXXX SYNDROME
GM09040Female39 YR parentORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
GM00088Female19 YR probandTURNER SYNDROME
GM09039Male2 YR probandORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC