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1.
Conservation of biotindase in mammals and identification of the putative biotinidase gene in Drosophila melanogaster.
Mol Genet Metab
; 74(4): 492-9, 2001 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-11749055
2.
Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase.
Mol Genet Metab
; 69(2): 111-5, 2000 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-10720437
3.
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
Hum Mutat
; 11(5): 410, 1998.
Artículo
en Inglés
| MEDLINE | ID: mdl-10206677
4.
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Hum Genet
; 102(5): 571-5, 1998 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-9654207
5.
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
Biochem Mol Med
; 61(1): 22-7, 1997 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-9232193
6.
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.
Hum Hered
; 50(2): 102-11, 2000.
Artículo
en Inglés
| MEDLINE | ID: mdl-10799968
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