A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

被引：152

作者：

Le Saux, O

Beck, K

Sachsinger, C

Silvestri, C

Treiber, C

Gring, H

Johnson, E

De Paepe, A

Pasquali-Ronchetti, I

Bercovitch, L

Terry, SF

Boyd, C

机构：

[1] Univ Hawaii, Pacific Biomed Res Ctr, Honolulu, HI 96822 USA

[2] Univ Modena, Dept Biomed Sci, Modena, Italy

[3] SW Fdn Biomed Res, Dept Genet, San Antonio, TX USA

[4] Barrow Neurol Inst, Phoenix, AZ 85013 USA

[5] Univ Ziekenhuis, Univ Hosp, Ctr Med Genet, Ghent, Belgium

[6] Univ Wales Hosp, Inst Med Genet, MRC, Connect Tissue Genet Grp, Cardiff, S Glam, Wales

[7] Brown Univ, Sch Med, Dept Dermatol, Providence, RI 02912 USA

[8] PXE Int Inc, Sharon, MA USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 04期

关键词：

D O I：

10.1086/323704

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

2539

引用

页码：613 / 613

页数：1

共 65 条

[1] Differential interactions of nucleotides at the two nucleotide binding domains of the cystic fibrosis transmembrane conductance regulator [J].

Aleksandrov, L ;

Mengos, A ;

Chang, XB ;

Aleksandrov, A ;

Riordan, JR .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (16) :12918-12923

[2] A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy [J].

Allikmets, R ;

Singh, N ;

Sun, H ;

Shroyer, NE ;

Hutchinson, A ;

Chidambaram, A ;

Gerrard, B ;

Baird, L ;

Stauffer, D ;

Peiffer, A ;

Rattner, A ;

Smallwood, P ;

Li, YX ;

Anderson, KL ;

Lewis, RA ;

Nathans, J ;

Leppert, M ;

Dean, M ;

Lupski, JR .

NATURE GENETICS, 1997, 15 (03) :236-246

[3] Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration [J].

Allikmets, R ;

Shroyer, NF ;

Singh, N ;

Seddon, JM ;

Lewis, RA ;

Bernstein, PS ;

Peiffer, A ;

Zabriskie, NA ;

Li, YX ;

Hutchinson, A ;

Dean, M ;

Lupski, JR ;

Leppert, M .

SCIENCE, 1997, 277 (5333) :1805-1807

[4]

Bacchelli B, 1999, MODERN PATHOL, V12, P1112

[5] Mutations in ABCC6 cause pseudoxanthoma elasticum [J].

Bergen, AAB ;

Plomp, AS ;

Schuurman, EJ ;

Terry, S ;

Breuning, M ;

Dauwerse, H ;

Swart, J ;

Kool, M ;

van Soest, S ;

Baas, F ;

ten Brink, JB ;

de Jong, PTVM .

NATURE GENETICS, 2000, 25 (02) :228-231

[6] Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency [J].

Brooks-Wilson, A ;

Marcil, M ;

Clee, SM ;

Zhang, LH ;

Roomp, K ;

van Dam, M ;

Yu, L ;

Brewer, C ;

Collins, JA ;

Molhuizen, HOF ;

Loubser, O ;

Ouelette, BFF ;

Fichter, K ;

Ashbourne-Excoffon, KJD ;

Sensen, CW ;

Scherer, S ;

Mott, S ;

Denis, M ;

Martindale, D ;

Frohlich, J ;

Morgan, K ;

Koop, B ;

Pimstone, S ;

Kastelein, JJP ;

Genest, J ;

Hayden, MR .

NATURE GENETICS, 1999, 22 (04) :336-345

[7] A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus:: high-resolution mapping and genomic structure [J].

Cai, L ;

Struk, B ;

Adams, MD ;

Ji, W ;

Haaf, T ;

Kang, HL ;

Dho, SH ;

Xu, XQ ;

Ringpfeil, F ;

Nancarrow, J ;

Zäch, S ;

Schaen, L ;

Stumm, M ;

Niu, TH ;

Chung, J ;

Lunze, K ;

Verrecchia, B ;

Goldsmith, LA ;

Viljoen, D ;

Figuera, LE ;

Fuchs, W ;

Lebwohl, M ;

Uitto, J ;

Richards, R ;

Hohl, D ;

Ramesar, R ;

Callen, DF ;

Kim, UJ ;

Doggett, NA ;

Neldner, KH ;

Lindpainter, K .

JOURNAL OF MOLECULAR MEDICINE-JMM, 2000, 78 (01) :36-46

[8] WORKSHOP ON PSEUDOXANTHOMA ELASTICUM - MOLECULAR-BIOLOGY AND PATHOLOGY OF THE ELASTIC FIBERS - JEFFERSON-MEDICAL-COLLEGE, PHILADELPHIA, PENNSYLVANIA, JUNE 10, 1992 [J].

CHRISTIANO, AM ;

LEBWOHL, MG ;

BOYD, CD ;

UITTO, J .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1992, 99 (05) :660-663

[9]

Contri MB, 1996, AM J PATHOL, V148, P569

[10]

Cotton RGH, 1998, HUM MUTAT, V12, P1, DOI 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO

← 1 2 3 4 5 6 7 →