PHENYLALANINE-HYDROXYLASE DEFICIENCY CAUSED BY A SINGLE BASE SUBSTITUTION IN AN EXON OF THE HUMAN PHENYLALANINE-HYDROXYLASE GENE

被引：55

作者：

LICHTERKONECKI, U

KONECKI, DS

DILELLA, AG

BRAYTON, K

MARVIT, J

HAHN, TM

TREFZ, FK

WOO, SLC

机构：

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

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

来源：

BIOCHEMISTRY | 1988年 / 27卷 / 08期

关键词：

D O I：

10.1021/bi00408a032

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：2881 / 2885

页数：5

共 39 条

[1] COMPOUND HETEROZYGOTES IN HYPERPHENYLALANINEMIA [J].

BARTHOLOME, K ;

OLEK, K ;

TREFZ, F .

HUMAN GENETICS, 1984, 65 (04) :405-406

[2]

BARTHOLOME K, 1975, PEDIATR RES, V9, P899, DOI 10.1203/00006450-197509120-00006

[3]

BICKEL H, 1954, Acta Paediatr, V43, P64, DOI 10.1111/j.1651-2227.1954.tb04000.x

[4] BUFFER GRADIENT GELS AND S-35 LABEL AS AN AID TO RAPID DNA-SEQUENCE DETERMINATION [J].

BIGGIN, MD ;

GIBSON, TJ ;

HONG, GF .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (13) :3963-3965

[5] PHENYLALANINAEMIA - DIFFERENTIAL DIAGNOSIS [J].

BLASKOVICS, ME ;

SCHAEFFLER, GE ;

HACK, S .

ARCHIVES OF DISEASE IN CHILDHOOD, 1974, 49 (11) :835-843

[6] CHARON PHAGES - SAFER DERIVATIVES OF BACTERIOPHAGE-LAMBDA FOR DNA CLONING [J].

BLATTNER, FR ;

WILLIAMS, BG ;

BLECHL, AE ;

DENNISTONTHOMPSON, K ;

FABER, HE ;

FURLONG, LA ;

GRUNWALD, DJ ;

KIEFER, DO ;

MOORE, DD ;

SCHUMM, JW ;

SHELDON, EL ;

SMITHIES, O .

SCIENCE, 1977, 196 (4286) :161-169

[7]

Bunn HF, 1977, HUMAN HEMOGLOBINS

[8]

DILELLA A, 1986, BIOCHEMISTRY-US, V25, P749

[9] AN AMINO-ACID SUBSTITUTION INVOLVED IN PHENYLKETONURIA IS IN LINKAGE DISEQUILIBRIUM WITH DNA HAPLOTYPE-2 [J].

DILELLA, AG ;

MARVIT, J ;

BRAYTON, K ;

WOO, SLC .

NATURE, 1987, 327 (6120) :333-336

[10] TIGHT LINKAGE BETWEEN A SPLICING MUTATION AND A SPECIFIC DNA HAPLOTYPE IN PHENYLKETONURIA [J].

DILELLA, AG ;

MARVIT, J ;

LIDSKY, AS ;

GUTTLER, F ;

WOO, SLC .

NATURE, 1986, 322 (6082) :799-803

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