SINGLE-BASE PAIR DELETIONS IN EXONS 39 AND 42 OF THE COL4A5 GENE IN ALPORT SYNDROME

被引：16

作者：

RENIERI, A

GALLI, L

DEMARCHL, M

VOLTI, SL

MOLLICA, F

LUPO, A

MASCHIO, G

PEISSEL, B

ROSSETTI, S

PIGNATTI, PF

TURCO, AE

机构：

[1] UNIV TORINO, DIPARTIMENTO SCI CLIN & BIOL, I-10034 ORBASSANO, ITALY

[2] UNIV VERONA, IST SCI BIOL & GENET, I-37134 VERONA, ITALY

[3] UNIV CATANIA, PEDIAT CLIN, CATANIA, ITALY

[4] UNIV VERONA, DIV NEFROL MED, I-37134 VERONA, ITALY

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 01期

关键词：

D O I：

10.1093/hmg/3.1.201

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：

[No abstract available]

引用

页码：201 / 202

页数：2

共 17 条

[1] AN 8-BP DELETION IN EXON-51 OF THE COL4A5 GENE OF AN ALPORT SYNDROME PATIENT [J].

BOYE, E ;

FLINTER, FA ;

BOBROW, M ;

HARRIS, A .

HUMAN MOLECULAR GENETICS, 1993, 2 (05) :595-596

[2] NONISOTOPIC DETECTION OF SINGLE-STRAND CONFORMATION POLYMORPHISM (PCR-SSCP) - A RAPID AND SENSITIVE TECHNIQUE IN DIAGNOSIS OF PHENYLKETONURIA [J].

DOCKHORNDWORNICZAK, B ;

DWORNICZAK, B ;

BROMMELKAMP, L ;

BULLES, J ;

HORST, J ;

BOCKER, WW .

NUCLEIC ACIDS RESEARCH, 1991, 19 (09) :2500-2500

[3] GENETICS OF CLASSIC ALPORTS-SYNDROME [J].

FLINTER, FA ;

CHANTLER, C ;

CAMERON, JS ;

HOUSTON, I ;

BOBROW, M .

LANCET, 1988, 2 (8618) :1005-1007

[4]

HASSTEDT SJ, 1986, AM J HUM GENET, V38, P940

[5]

KNEBELMANN B, 1992, AM J HUM GENET, V51, P135

[6]

KRAWCZAK M, 1991, HUM GENET, V86, P425

[7] NONSENSE MUTATIONS AND DIMINISHED MESSENGER-RNA LEVELS [J].

MCINTOSH, I ;

HAMOSH, A ;

DIETZ, HC .

NATURE GENETICS, 1993, 4 (03) :219-219

[8] RAPID AND SENSITIVE DETECTION OF POINT MUTATIONS AND DNA POLYMORPHISMS USING THE POLYMERASE CHAIN-REACTION [J].

ORITA, M ;

SUZUKI, Y ;

SEKIYA, T ;

HAYASHI, K .

GENOMICS, 1989, 5 (04) :874-879

[9] SMALL FRAMESHIFT DELETIONS WITHIN THE COL4A5 GENE IN JUVENILE-ONSET ALPORT SYNDROME [J].

RENIERI, A ;

SERI, M ;

GALLI, L ;

COSCI, P ;

IMBASCIATI, E ;

MASSELLA, L ;

RIZZONI, G ;

RESTAGNO, G ;

CARBONARA, AO ;

STRAMIGNONI, E ;

BASOLO, B ;

PICCOLI, G ;

DEMARCHI, M .

HUMAN GENETICS, 1993, 92 (04) :417-420

[10]

RENIERI A, 1993, AM J HUM GENET, V53, P1219

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