ALPORT SYNDROME CAUSED BY A 5' DELETION WITHIN THE COL4A5 GENE

被引：31

作者：

RENIERI, A

SERI, M

MYERS, JC

PIHLAJANIEMI, T

SESSA, A

RIZZONI, G

DEMARCHI, M

机构：

[1] UNIV SIENA,DIPARTIMENTO BIOL MOLEC,CATTEDRA GENET MED,I-53100 SIENNA,ITALY

[2] UNIV OULU,DEPT MED BIOCHEM,SF-90220 OULU,FINLAND

[3] OSPED CIVILE,DIV NEFROL & DIALISI,I-20059 VIMERCATE,ITALY

[4] OSPED BAMBINO GESU,DIV NEFROL & DIALISI,I-00165 ROME,ITALY

[5] UNIV PENN,DEPT BIOCHEM & BIOPHYS,PHILADELPHIA,PA 19104

[6] UNIV OULU,BIOCTR COLLAGEN RES UNIT,SF-90220 OULU,FINLAND

来源：

HUMAN GENETICS | 1992年 / 89卷 / 01期

关键词：

D O I：

10.1007/BF00207059

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (> 38 kb) that included the 5' part of the gene.

引用

页码：120 / 121

页数：2

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