Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus

被引：15

作者：

Li, Y

Marcos, I

Borrego, S

Yu, ZY

Zhang, K

Antiñolo, G

机构：

[1] Hosp Univ Virgen del Rocio, Unidad Genet Med & Diagnost Prenatal, Seville 41013, Spain

[2] Cleveland Clin Fdn, Cole Eye Inst, Cleveland, OH 44195 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 07期

关键词：

D O I：

10.1136/jmg.38.7.478

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：478 / 480

页数：3

共 29 条

[11] Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q [J].

Kelsell, RE ;

Gregory-Evans, K ;

Gregory-Evans, CY ;

Holder, GE ;

Jay, MR ;

Weber, BHF ;

Moore, AT ;

Bird, AC ;

Hunt, DM .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (01) :274-279

[12] RDS/peripherin gene mutations are frequent causes of central retinal dystrophies [J].

Kohl, S ;

ChristAdler, M ;

ApfelstedtSylla, E ;

Kellner, U ;

Eckstein, A ;

Zrenner, E ;

Wissinger, B .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (08) :620-626

[13]

Marcos I, 2000, J Med Genet, V37, pE5, DOI 10.1136/jmg.37.6.e5

[14] Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR [J].

Martínez-Mir, A ;

Paloma, E ;

Allikmets, R ;

Ayuso, C ;

del Río, T ;

Dean, M ;

Vilageliu, L ;

Gonzàlez-Duarte, R ;

Balcells, S .

NATURE GENETICS, 1998, 18 (01) :11-12

[15] A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21 [J].

MartinezMir, A ;

Bayes, M ;

Vilageliu, L ;

Grinberg, D ;

Ayuso, C ;

DelRio, T ;

GarciaSandoval, B ;

Bussaglia, E ;

Baiget, M ;

GonzalezDuarte, R ;

Balcells, S .

GENOMICS, 1997, 40 (01) :142-146

[16] The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease [J].

Maugeri, A ;

van Driel, MA ;

van de Pol, DJR ;

Klevering, BJ ;

van Haren, FJJ ;

Tijmes, N ;

Bergen, AAB ;

Rohrschneider, K ;

Blankenagel, A ;

Pinckers, AJLG ;

Dahl, N ;

Brunner, HG ;

Deutman, AF ;

Hoyng, CB ;

Cremers, FPM .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (04) :1024-1035

[17] Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis [J].

Morimura, H ;

Fishman, GA ;

Grover, SA ;

Fulton, AB ;

Berson, EL ;

Dryja, TP .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (06) :3088-3093

[18] ASN244HIS MUTATION OF THE PERIPHERIN/RDS GENE CAUSING AUTOSOMAL-DOMINANT CONE-ROD DEGENERATION [J].

NAKAZAWA, M ;

KIKAWA, E ;

CHIDA, Y ;

TAMAI, M .

HUMAN MOLECULAR GENETICS, 1994, 3 (07) :1195-1196

[19] BUTTERFLY-SHAPED PIGMENT DYSTROPHY OF THE FOVEA CAUSED BY A POINT MUTATION IN CODON-167 OF THE RDS GENE [J].

NICHOLS, BE ;

SHEFFIELD, VC ;

VANDENBURGH, K ;

DRACK, AV ;

KIMURA, AE ;

STONE, EM .

NATURE GENETICS, 1993, 3 (03) :202-207

[20] A POINT MUTATION IN THE RDS-PERIPHERIN GENE IN A SPANISH FAMILY WITH CENTRAL AREOLAR CHOROIDAL DYSTROPHY [J].

REIG, C ;

SERRA, A ;

GEAN, E ;

VIDAL, M ;

ARUMI, J ;

DELACALZADA, MD ;

ANTICH, J ;

CARBALLO, M .

OPHTHALMIC GENETICS, 1995, 16 (02) :39-44

← 1 2 3 →