NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE LEADING TO COMPLETE LOSS OF ENZYMATIC-ACTIVITY

被引：4

作者：

DIANZANI, I

KNAPPSKOG, PM

DESANCTIS, L

GIANNATTASIO, S

RIVA, E

PONZONE, A

APOLD, J

CAMASCHELLA, C

机构：

[1] HAUKELAND HOSP,DEPT MED GENET,N-5021 BERGEN,NORWAY

[2] CLIN PEDIAT 5,I-20142 MILAN,ITALY

[3] CNR,CTR STUDI MITOCONDRI & METAB ENERGET,I-70126 BARI,ITALY

[4] OSPED S LUIGI GONZAGA,CIOS,CII,CNR,DIPARTIMENTO SCI BIOMED & ONCOL UMANA,I-10043 TURIN,ITALY

来源：

HUMAN MUTATION | 1995年 / 6卷 / 03期

关键词：

D O I：

10.1002/humu.1380060308

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：247 / 249

页数：3

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