XP21 DNA MICRODELETION IN A PATIENT WITH CHRONIC GRANULOMATOUS-DISEASE, RETINITIS PIGMENTOSA, AND MCLEOD PHENOTYPE

被引：54

作者：

DESTBASILE, G

BOHLER, MC

FISCHER, A

CARTRON, J

DUFIER, JL

GRISCELLI, C

ORKIN, SH

机构：

[1] HOP LAENNEC, SERV OPHTALMOL, F-75340 PARIS 07, FRANCE

[2] CHILDRENS HOSP MED CTR, DIV HEMATOL ONCOL, BOSTON, MA 02115 USA

[3] HOP NECKER ENFANTS MALAD, INSERM, U25, F-75730 PARIS 15, FRANCE

[4] HOP NECKER ENFANTS MALAD, CTR TRANSFUS SANGUINE, F-75730 PARIS 15, FRANCE

来源：

HUMAN GENETICS | 1988年 / 80卷 / 01期

关键词：

D O I：

10.1007/BF00451463

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：85 / 89

页数：5

共 28 条

[1] DNA LINKAGE ANALYSIS OF X-CHROMOSOME-LINKED CHRONIC GRANULOMATOUS-DISEASE [J].

BAEHNER, RL ;

KUNKEL, LM ;

MONACO, AP ;

HAINES, JL ;

CONNEALLY, PM ;

PALMER, C ;

HEEREMA, N ;

ORKIN, SH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (10) :3398-3401

[2] CLOSE GENETIC-LINKAGE BETWEEN X-LINKED RETINITIS PIGMENTOSA AND A RESTRICTION FRAGMENT LENGTH POLYMORPHISM IDENTIFIED BY RECOMBINANT DNA PROBE L1.28 [J].

BHATTACHARYA, SS ;

WRIGHT, AF ;

CLAYTON, JF ;

PRICE, WH ;

PHILLIPS, CI ;

MCKEOWN, CME ;

JAY, M ;

BIRD, AC ;

PEARSON, PL ;

SOUTHERN, EM ;

EVANS, HJ .

NATURE, 1984, 309 (5965) :253-255

[3] A STUDY OF 25 PATIENTS WITH CHRONIC GRANULOMATOUS-DISEASE - A NEW CLASSIFICATION BY CORRELATING RESPIRATORY BURST, CYTOCHROME-B, AND FLAVOPROTEIN [J].

BOHLER, MC ;

SEGER, RA ;

MOUY, R ;

VILMER, E ;

FISCHER, A ;

GRISCELLI, C .

JOURNAL OF CLINICAL IMMUNOLOGY, 1986, 6 (02) :136-145

[4]

BOYUM A, 1968, SCAND J CLIN LAB INV, VS 21, P77

[5] A STUDY OF RETINITIS PIGMENTOSA IN THE CITY OF BIRMINGHAM .1. PREVALENCE [J].

BUNDEY, S ;

CREWS, SJ .

JOURNAL OF MEDICAL GENETICS, 1984, 21 (06) :417-420

[6] LINKAGE ANALYSIS OF 2 CLONED DNA-SEQUENCES FLANKING THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS ON THE SHORT ARM OF THE HUMAN X-CHROMOSOME [J].

DAVIES, KE ;

PEARSON, PL ;

HARPER, PS ;

MURRAY, JM ;

OBRIEN, T ;

SARFARAZI, M ;

WILLIAMSON, R .

NUCLEIC ACIDS RESEARCH, 1983, 11 (08) :2303-2312

[7]

DENSEN P, 1981, BLOOD, V58, P34

[8] THE GLYCOPROTEIN ENCODED BY THE X-LINKED CHRONIC GRANULOMATOUS-DISEASE LOCUS IS A COMPONENT OF THE NEUTROPHIL CYTOCHROME-B COMPLEX [J].

DINAUER, MC ;

ORKIN, SH ;

BROWN, R ;

JESAITIS, AJ ;

PARKOS, CA .

NATURE, 1987, 327 (6124) :717-720

[9]

DUNGER DB, 1986, LANCET, V1, P585

[10] PRENATAL-DIAGNOSIS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY WITH USE OF DNA POLYMORPHISMS [J].

FOX, J ;

HACK, AM ;

FENTON, WA ;

GOLBUS, MS ;

WINTER, S ;

KALOUSEK, F ;

ROZEN, R ;

BRUSILOW, SW ;

ROSENBERG, LE .

NEW ENGLAND JOURNAL OF MEDICINE, 1986, 315 (19) :1205-1208

← 1 2 3 →