ALPORT-LEIOMYOMATOSIS SYNDROME - AN UPDATE

被引：25

作者：

GARCIATORRES, R ^{[1
]}

OROZCO, L ^{[1
]}

机构：

[1] INST NACL PEDIAT, DEPT MOLEC BIOL, MEXICO CITY, MEXICO

来源：

AMERICAN JOURNAL OF KIDNEY DISEASES | 1993年 / 22卷 / 05期

关键词：

ALPORT SYNDROME; ESOPHAGEAL LEIOMYOMATOSIS; GENITAL LEIOMYOMAS; COL4A5; GENE;

D O I：

10.1016/S0272-6386(12)80425-2

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Alport-leiomyomatosis syndrome is a polygenic syndrome with a dominant X-linked inheritance pattern resulting from a large deletion in the Fend of the COL4A5 gene coding for the type IV collagen alpha 5 chains. Hypothetically, the deletion extends beyond the Fend and probably includes a second contiguous gene responsible for leiomyomatosis (the DL gene) and even a third one coding for congenital cataract (the CCT gene). © 1993, National Kidney Foundation. All rights reserved. All rights reserved.

引用

页码：641 / 648

页数：8

共 45 条

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