PHENYLKETONURIA IN SOUTHERN POLAND - A NEW SPLICE MUTATION IN INTRON-9 AT THE PAH LOCUS

被引：8

作者：

ZYGULSKA, M

EIGEL, A

PIETRZYK, JJ

HORST, J

机构：

[1] UNIV MUNSTER,INST HUMANGENET,D-48149 MUNSTER,GERMANY

[2] NICHOLAS COPERNICUS MED ACAD,INST PEDIAT,DEPT MED GENET,PL-30050 KRAKOW,POLAND

来源：

HUMAN MUTATION | 1994年 / 4卷 / 04期

关键词：

D O I：

10.1002/humu.1380040412

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：297 / 299

页数：3

共 11 条

[1] MOLECULAR-STRUCTURE AND POLYMORPHIC MAP OF THE HUMAN PHENYLALANINE-HYDROXYLASE GENE [J].

DILELLA, AG ;

KWOK, SCM ;

LEDLEY, FD ;

MARVIT, J ;

WOO, SLC .

BIOCHEMISTRY, 1986, 25 (04) :743-749

[2] PHENYLALANINE-HYDROXYLASE GENE - NOVEL MISSENSE MUTATION IN EXON-7 CAUSING SEVERE PHENYLKETONURIA [J].

DWORNICZAK, B ;

GRUDDA, K ;

STUMPER, J ;

BARTHOLOME, K ;

AULEHLASCHOLZ, C ;

HORST, J .

GENOMICS, 1991, 9 (01) :193-199

[3] PHENYLKETONURIA - DETECTION OF A FREQUENT HAPLOTYPE 4 ALLELE MUTATION [J].

DWORNICZAK, B ;

AULEHLASCHOLZ, C ;

HORST, J .

HUMAN GENETICS, 1989, 84 (01) :95-96

[4]

Eisensmith Randy C., 1992, Human Mutation, V1, P13, DOI 10.1002/humu.1380010104

[5] MOLECULAR ANALYSIS OF PHENYLKETONURIA IN DENMARK - 99-PERCENT OF THE MUTATIONS DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS [J].

GULDBERG, P ;

HENRIKSEN, KF ;

GUTTLER, F .

GENOMICS, 1993, 17 (01) :141-146

[6]

GULDBERG P, 1993, HUM MOL GENET, V2, P1730

[7]

GUTTLER F, 1989, ACTA PAEDIATR SC S, V280, P1

[8] PHENYLKETONURIA MUTATION IN SOUTHERN EUROPEANS [J].

KALAYDJIEVA, L ;

DWORNICZAK, B ;

AULEHLASCHOLZ, C ;

DEVOTO, M ;

ROMEO, G ;

STUHRMANN, M ;

HORST, J .

LANCET, 1991, 337 (8745) :865-865

[9]

KRAWCZAK M, 1992, HUM GENET, V90, P41

[10]

ZYGULSKA M, 1991, HUM GENET, V86, P292

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