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1.
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.
Biochim Biophys Acta
; 1782(6): 378-84, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18346471
2.
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
FEBS J
; 276(7): 2048-59, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19292873
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