Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4) -: art. no. e109

被引：50

作者：

Berry, V

Yang, Z

Addison, PKF

Francis, PJ

Ionides, A

Karan, G

Jiang, L

Lin, W

Hu, J

Yang, R

Moore, A

Zhang, K ^{[1
]}

Bhattacharya, SS

机构：

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

[2] Moorfields Eye Hosp, London, England

[3] Univ Utah, Dept Ophthalmol & Visual Sci, Program Human Mol Biol & Genet, Eccles Inst Human Genet, Salt Lake City, UT USA

[4] Chinese Acad Mil Sci, Beijing, Peoples R China

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 08期

关键词：

D O I：

10.1136/jmg.2004.020289

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：6

共 20 条

[1] Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies [J].

Azuma, N ;

Hirakiyama, A ;

Inoue, T ;

Asaka, A ;

Yamada, M .

HUMAN MOLECULAR GENETICS, 2000, 9 (03) :363-366

[2] Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans [J].

Berry, V ;

Francis, P ;

Reddy, MA ;

Collyer, D ;

Vithana, E ;

MacKay, I ;

Dawson, G ;

Carey, AH ;

Moore, A ;

Bhattacharya, SS ;

Quinlan, RA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :1141-1145

[3]

EVANS J, 1996, HLTH TRENDS, V28, P5

[4]

FERRELL RE, 1982, AM J HUM GENET, V34, P245

[5] The bicoid-related Pitx gene family in development [J].

Gage, PJ ;

Suh, H ;

Camper, SA .

MAMMALIAN GENOME, 1999, 10 (02) :197-200

[6] The genetic and molecular basis of congenital eye defects [J].

Graw, J .

NATURE REVIEWS GENETICS, 2003, 4 (11) :876-888

[7]

Graw Jochen, 2003, Ophthalmic Genet, V24, P1, DOI 10.1076/opge.24.1.1.13888

[8] Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations [J].

Hanson, I ;

Churchill, A ;

Love, J ;

Axton, R ;

Moore, T ;

Clarke, M ;

Meire, F ;

van Heyningen, V .

HUMAN MOLECULAR GENETICS, 1999, 8 (02) :165-172

[9] VARIABLE EXPRESSIVITY OF AUTOSOMAL DOMINANT ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS IN 6 GENERATIONS [J].

HITTNER, HM ;

KRETZER, FL ;

ANTOSZYK, JH ;

FERRELL, RE ;

MEHTA, RS .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1982, 93 (01) :57-70

[10] Clinical and genetic heterogeneity in autosomal dominant cataract [J].

Ionides, A ;

Francis, P ;

Berry, V ;

Mackay, D ;

Bhattacharya, S ;

Shiels, A ;

Moore, A .

BRITISH JOURNAL OF OPHTHALMOLOGY, 1999, 83 (07) :802-808

← 1 2 →