Pérez B - Search Results

1

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).

Pérez B, Rincón A, Jorge-Finnigan A, Richard E, Merinero B, Ugarte M, Desviat LR. Pérez B, et al. Hum Mutat. 2009 Dec;30(12):1676-82. doi: 10.1002/humu.21118. Hum Mutat. 2009. PMID: 19862841

2

A new PKU mutation associated with haplotype 12.

Desviat LR, Pérez B, Ugarte M. Desviat LR, et al. Among authors: perez b. Hum Mol Genet. 1992 Dec;1(9):765-6. doi: 10.1093/hmg/1.9.765. Hum Mol Genet. 1992. PMID: 1363838 No abstract available.

3

Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.

Pérez B, Desviat LR, Die M, Ugarte M. Pérez B, et al. Hum Genet. 1992 May;89(3):341-2. doi: 10.1007/BF00220555. Hum Genet. 1992. PMID: 1601425

4

Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.

Desviat LR, Pérez B, De Lucca M, Cornejo V, Schmidt B, Ugarte M. Desviat LR, et al. Among authors: perez b. Am J Hum Genet. 1995 Aug;57(2):337-42. Am J Hum Genet. 1995. PMID: 7668259 Free PMC article.

5

Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia.

Pérez B, Desviat LR, Ugarte M. Pérez B, et al. Hum Mutat. 1995;5(2):188-90. doi: 10.1002/humu.1380050217. Hum Mutat. 1995. PMID: 7749420 No abstract available.

6

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.

Pérez B, Desviat LR, García MJ, Ugarte M. Pérez B, et al. J Inherit Metab Dis. 1994;17(3):377-8. doi: 10.1007/BF00711839. J Inherit Metab Dis. 1994. PMID: 7807962 No abstract available.

7

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Desviat LR, Pérez B, Ugarte M. Desviat LR, et al. Among authors: perez b. Hum Genet. 1993 Oct 1;92(3):254-8. doi: 10.1007/BF00244468. Hum Genet. 1993. PMID: 8104860

8

Presence of the Mediterranean PKU mutation IVS10 in Latin America.

Pérez B, Desviat LR, Díe M, Cornejo V, Chamoles NA, Nicolini H, Ugarte M. Pérez B, et al. Hum Mol Genet. 1993 Aug;2(8):1289-90. doi: 10.1093/hmg/2.8.1289. Hum Mol Genet. 1993. PMID: 8401510 No abstract available.

9

Mutation analysis of phenylketonuria in south Brazil.

Pérez B, Desviat LR, De Lucca M, Schmidt B, Loghin-Grosso N, Giugliani R, Pires RF, Ugarte M. Pérez B, et al. Hum Mutat. 1996;8(3):262-4. doi: 10.1002/(SICI)1098-1004(1996)8:3<262::AID-HUMU10>3.0.CO;2-0. Hum Mutat. 1996. PMID: 8889586 No abstract available.

10

Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.

Pérez B, Desviat LR, Ugarte M. Pérez B, et al. Am J Hum Genet. 1997 Jan;60(1):95-102. Am J Hum Genet. 1997. PMID: 8981952 Free PMC article.

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