RETINOBLASTOMA-DEL(13Q14) - REPORT OF 2 PATIENTS, ONE WITH A TRISOMIC SIB DUE TO MATERNAL INSERTION - GENE-DOSAGE EFFECT FOR ESTERASE-D

被引：62

作者：

RIVERA, H

TURLEAU, C

DEGROUCHY, J

JUNIEN, C

DESPOISSE, S

ZUCKER, JM

机构：

[1] HOP NECKER ENFANTS MALAD,INSERM,U173,CNRS,ER 149,F-75743 PARIS 15,FRANCE

[2] INST PIERRE & MARIE CURIE,F-75231 PARIS 05,FRANCE

[3] INSERM,U128,INST PATHOL MOLEC,F-75674 PARIS 14,FRANCE

来源：

HUMAN GENETICS | 1981年 / 59卷 / 03期

关键词：

D O I：

10.1007/BF00283666

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：211 / 214

页数：4

共 11 条

[1]

DEGROUCHY J, 1980, ARCH FR PEDIATR, V37, P531

[2]

DESPOISSE S, 1981, CYTOGENET CELL GENET

[3] RETINOBLASTOMA, CHROMOSOME-13, AND INVITRO CELLULAR RADIOSENSITIVITY [J].

NOVE, J ;

LITTLE, JB ;

WEICHSELBAUM, RR ;

NICHOLS, WW ;

HOFFMAN, E .

CYTOGENETICS AND CELL GENETICS, 1979, 24 (03) :176-184

[4]

RICCARDI VM, 1979, CLIN GENET, V15, P332

[5] EVIDENCE FOR A NULL-ALLELE AT THE ESTERASE-D (EC-3111) LOCUS [J].

SPARKES, RS ;

TARGUM, S ;

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SPARKES, MC ;

CRIST, M .

HUMAN GENETICS, 1979, 46 (03) :319-323

[6] REGIONAL ASSIGNMENT OF GENES FOR HUMAN ESTERASE-D AND RETINOBLASTOMA TO CHROMOSOME BAND 13Q14 [J].

SPARKES, RS ;

SPARKES, MC ;

WILSON, MG ;

TOWNER, JW ;

BENEDICT, W ;

MURPHREE, AL ;

YUNIS, JJ .

SCIENCE, 1980, 208 (4447) :1042-1044

[7]

TURLEAU C, 1980, ANN GENET-PARIS, V23, P169

[8]

VIEGASPEQUIGNOT E, 1978, ANN GENET-PARIS, V21, P122

[9]

VOGEL F, 1979, HUM GENET, V52, P1

[10] RETINOBLASTOMA, GROSS INTERNAL MALFORMATIONS, AND DELETION 13Q14-]Q31 [J].

YUNIS, E ;

ZUNIGA, R ;

RAMIREZ, E .

HUMAN GENETICS, 1981, 56 (03) :283-286

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