A NOVEL FRAMESHIFT DELETION IN TYPE-IV COLLAGEN ALPHA-5 GENE IN A JUVENILE-TYPE ALPORT SYNDROME PATIENT - AN ADENINE DELETION (2940/2943 DEL A) IN EXON 34 OF COL4A5

被引：17

作者：

PEISSEL, B

ROSSETTI, S

RENIERI, A

GALLI, L

DEMARCHI, M

BATTINI, G

MERONI, M

SESSA, A

SCHIAVANO, S

PIGNATTI, PF

TURCO, AE

机构：

[1] UNIV VERONA,SCH MED,HOSP POLICLIN,INST BIOL SCI & GENET,I-37134 VERONA,ITALY

[2] UNIV SIENA,DEPT MOLEC BIOL & MED GENET,I-53100 SIENA,ITALY

[3] UNIV TURIN,DEPT CLIN & BIOL SCI,I-10043 ORBASANO,ITALY

[4] HOSP VIMERCATE,NEPHROL & DIALYSIS,I-20059 MILAN,ITALY

[5] UNIT NEPHROL,I-73042 LASARANO,ITALY

来源：

HUMAN MUTATION | 1994年 / 3卷 / 04期

关键词：

ALPORT SYNDROME; SSCP; HETERODUPLEX ANALYSIS; MUTATION DETECTION; COL4A5;

D O I：

10.1002/humu.1380030410

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：386 / 390

页数：5

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