Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy

Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy
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伴有角膜格子营养不良和颅神经病变的家族性淀粉样变性的遗传因素

DOI:
10.1111/j.1399-0004.1973.tb01140.x
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发表时间:
1973
期刊:
影响因子:
3.5
通讯作者:
J. Meretoja
J. Meretoja
中科院分区:
医学2区
文献类型:
--
作者:
J. Meretoja

文献摘要

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对家族性系统性淀粉样变性伴格状角膜营养不良、面部麻痹和肾病进行了遗传分析。有患病风险的228个兄弟姐妹中有851个兄弟姐妹,他们被细分如下:207个患病,134个正常,158个没有检查,138个因为年龄太小而没有诊断,214个已经死亡。
A genetic analysis of familial systemic amyloidosis with lattice corneal dystrophy, facial paresis and nephropathy has been made. The 228 sibships which were at risk of the disease contained 851 sibs who were subdivided as follows: 207 affected, 134 normal, 158 not examined, 138 not diagnosed because they were too young, and 214 dead sibs.