| 1 | NP, NPHD
|
| Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.
|
| Dalal I, Grunebaum E, Cohen A, Roifman CM.
|
| Clin Genet 59(6):430-7.
2001
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| 2 | NP, NPHD
|
| Mutations in purine nucleoside phosphorylase deficiency.
|
| Markert ML, Finkel BD, McLaughlin TM, Watson TJ, Collard HR, McMahon CP, Andrews LG, Barrett MJ, Ward FE.
|
| Hum Mutat 9(2):118-21.
1997
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| 3 | NPHD
|
| Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.
|
| Aust MR, Andrews LG, Barrett MJ, Norby-Slycord CJ, Markert ML.
|
| Am J Hum Genet 51(4):763-72.
1992
|