PHENYLKETONURIA IN CHINA - IDENTIFICATION AND CHARACTERIZATION OF 3 NOVEL NUCLEOTIDE SUBSTITUTIONS IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE

被引：2

作者：

LI, J

EISENSMITH, RC

WANG, T

LO, WHY

HUANG, SZ

ZENG, YT

YUAN, LF

LIU, SR

WOO, SLC

机构：

[1] BAYLOR COLL MED,DEPT CELL BIOL,HOUSTON,TX 77030

[2] BAYLOR COLL MED,INST GENET MOLEC,HOUSTON,TX 77030

[3] CHINESE ACAD MED SCI,INST BASIC MED SCI,DEPT MED GENET,BEIJING 100730,PEOPLES R CHINA

[4] SHANGHAI CHILDRENS HOSP,MED GENET LAB,SHANGHAI 200040,PEOPLES R CHINA

[5] BEIJING MED UNIV,FIRST AFFILIATED HOSP,DEPT PEDIAT,BEIJING 100083,PEOPLES R CHINA

[6] BAYLOR COLL MED,HOWARD HUGHES MED INST,HOUSTON,TX 77030

来源：

HUMAN MUTATION | 1994年 / 3卷 / 03期

关键词：

D O I：

10.1002/humu.1380030323

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：312 / 314

页数：3

共 15 条

[1]

DILELLA AG, 1988, LANCET, V1, P497

[2]

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

[3]

GOLTSOV AA, 1992, AM J HUM GENET, V51, P627

[4] A SINGLE POLYMORPHIC STR SYSTEM IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE PERMITS RAPID PRENATAL-DIAGNOSIS AND CARRIER SCREENING FOR PHENYLKETONURIA [J].

GOLTSOV, AA ;

EISENSMITH, RC ;

NAUGHTON, ER ;

JIN, L ;

CHAKRABORTY, R ;

WOO, SLC .

HUMAN MOLECULAR GENETICS, 1993, 2 (05) :577-581

[5]

He Guo-Shun, 1992, Human Mutation, V1, P423, DOI 10.1002/humu.1380010513

[6] IDENTIFICATION OF 3 NOVEL MISSENSE PKU MUTATIONS AMONG CHINESE [J].

LI, J ;

EISENSMITH, RC ;

WANG, T ;

LO, WHY ;

HUANG, SZ ;

ZENG, YT ;

YUAN, LF ;

LIU, SR ;

WOO, SLC .

GENOMICS, 1992, 13 (03) :894-895

[7]

LIU SR, 1986, CHINESE MED J-PEKING, V99, P113

[8]

SVENSSON E, 1993, IN PRESS EUR J HUM G

[9]

Svensson Elisabeth, 1992, Human Mutation, V1, P129

[10] MOLECULAR-GENETICS OF PKU IN EASTERN-EUROPE - A NONSENSE MUTATION ASSOCIATED WITH HAPLOTYPE-4 OF THE PHENYLALANINE-HYDROXYLASE GENE [J].

WANG, T ;

OKANO, Y ;

EISENSMITH, RC ;

FEKETE, G ;

SCHULER, D ;

BERENCSI, G ;

NASZ, I ;

WOO, SLC .

SOMATIC CELL AND MOLECULAR GENETICS, 1990, 16 (01) :85-90

← 1 2 →