Publication
Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW, Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet14(3):361-5 1996 |
PubMed ID: 8896573 |
|
Records Return:
(2)
|
|
|
|
Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM03878 | Male | 5 YR | 569 | brother | PYROGLUTAMICACIDURIA | GM |
GM03877 | Male | 3 YR | 569 | proband | PYROGLUTAMICACIDURIA | GM |
|
|
|