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
收藏
页码：613 / 613
页数：1
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