Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity

被引:13
作者
Desviat, LR [1 ]
Perez, B [1 ]
Ugarte, M [1 ]
机构
[1] UNIV AUTONOMA MADRID,CSIC,CTR BIOL MOLEC SEVERO OCHOA,E-28049 MADRID,SPAIN
关键词
D O I
10.1007/BF01799436
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:227 / 230
页数:4
相关论文
共 8 条
[1]  
AVIGAD S, 1991, AM J HUM GENET, V49, P393
[2]  
DESVIAT LR, 1993, HUM GENET, V92, P254
[3]   MOLECULAR-BASIS FOR NONPHENYLKETONURIA HYPERPHENYLALANINEMIA [J].
ECONOMOUPETERSEN, E ;
HENRIKSEN, KF ;
GULDBERG, P ;
GUTTLER, F .
GENOMICS, 1992, 14 (01) :1-5
[4]   APPLICATION OF NATURAL AND AMPLIFICATION CREATED RESTRICTION SITES FOR THE DIAGNOSIS OF PKU MUTATIONS [J].
EIKEN, HG ;
ODLAND, E ;
BOMAN, H ;
SKJELKVALE, L ;
ENGEBRETSEN, LF ;
APOLD, J .
NUCLEIC ACIDS RESEARCH, 1991, 19 (07) :1427-1430
[5]   MUTATIONAL SPECTRUM OF PHENYLALANINE-HYDROXYLASE DEFICIENCY IN SICILY - IMPLICATIONS FOR DIAGNOSIS OF HYPERPHENYL-ALANINEMIA IN SOUTHERN EUROPE [J].
GULDBERG, P ;
ROMANO, V ;
CERATTO, N ;
BOSCO, P ;
CIUNA, M ;
INDELICATO, A ;
MOLLICA, F ;
MELI, C ;
GIOVANNINI, M ;
RIVA, E ;
BIASUCCI, G ;
HENRIKSEN, KF ;
GUTTLER, F .
HUMAN MOLECULAR GENETICS, 1993, 2 (10) :1703-1707
[6]   MOLECULAR HETEROGENEITY OF NONPHENYLKETONURIA HYPERPHENYLALANINEMIA IN 25 DANISH PATIENTS [J].
GULDBERG, P ;
HENRIKSEN, KF ;
THONY, B ;
BLAU, N ;
GUTTLER, F .
GENOMICS, 1994, 21 (02) :453-455
[7]   PHENOTYPE DISTRIBUTION IN THE SPANISH PHENYLKETONURIA POPULATION AND RELATED GENOTYPES [J].
MARTINEZPARDO, M ;
COLMENARES, AR ;
GARCIA, MJ ;
PEREZ, B ;
DESVIAT, LR ;
UGARTE, M .
JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (03) :366-368
[8]   EXPRESSION ANALYSIS OF MUTATION P244L, WHICH CAUSES MILD HYPERPHENYLALANINEMIA [J].
PEREZ, B ;
DESVIAT, LR ;
UGARTE, M .
HUMAN MUTATION, 1995, 5 (02) :188-190