An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta

被引：29

作者：

Michaelides, M

Bloch-Zupan, A

Holder, GE

Hunt, DM

Moore, AT

机构：

[1] UCL, Inst Ophthalmol, London EC1V 9EL, England

[2] Moorfields Eye Hosp, London EC1V 2PD, England

[3] UCL, Eastman Dent Inst Oral Hlth Care Sci, Dept Paediat Dent, London WC1X 8LD, England

[4] Inst Child Hlth, Dev Biol Unit, London WC1N 1EH, England

[5] Great Ormond St Hosp Sick Children, London WC1N 1EH, England

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 06期

关键词：

D O I：

10.1136/jmg.2003.015792

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

[No abstract available]

引用

页码：468 / 473

页数：6

共 23 条

[21]

IDENTIFICATION OF A BARDET-BIEDL-SYNDROME LOCUS ON CHROMOSOME-3 AND EVALUATION OF AN EFFICIENT APPROACH TO HOMOZYGOSITY MAPPING [J].

SHEFFIELD, VC ;

CARMI, R ;

KWITEKBLACK, A ;

ROKHLINA, T ;

NISHIMURA, D ;

DUYK, GM ;

ELBEDOUR, K ;

SUNDEN, SL ;

STONE, EM .

HUMAN MOLECULAR GENETICS, 1994, 3 (08) :1331-1335

[22]

CNGA3 mutations in hereditary cone photoreceptor disorders [J].

Wissinger, B ;

Gamer, D ;

Jägle, H ;

Giorda, R ;

Marx, T ;

Mayer, S ;

Tippmann, S ;

Broghammer, M ;

Jurklies, B ;

Rosenberg, T ;

Jacobson, SG ;

Sener, EC ;

Tatlipinar, S ;

Hoyng, CB ;

Castellan, C ;

Bitoun, P ;

Andreasson, S ;

Rudolph, G ;

Kellner, U ;

Lorenz, B ;

Wolff, G ;

Verellen-Dumoulin, C ;

Schwartz, M ;

Cremers, FPM ;

Apfelstedt-ylla, E ;

Zrenner, E ;

Salati, R ;

Sharpe, LT ;

Kohl, S .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) :722-737

[23]

Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: Evidence for a fifth locus [J].

Woods, MO ;

Young, TL ;

Parfrey, PS ;

Hefferton, D ;

Green, JS ;

Davidson, WS .

GENOMICS, 1999, 55 (01) :2-9

← 1 2 3 →