Two novel mutations at contiguous codons in the fibrinogen Bβ chain associated with hypofibrinogenaemia

被引：4

作者：

Davis, Ryan L. ^{[1
]}

May, Stephen ^{[2
]}

Chunilal, Sanjeev ^{[3
]}

Brennan, Stephen O. ^{[1
,4
]}

机构：

[1] Univ Otago, Mol Pathol Lab, Christchurch 8014, New Zealand

[2] Pathlab Waikato, Hamilton, New Zealand

[3] Royal N Shore Hosp, Auckland, New Zealand

[4] Canterbury Hlth Labs, Mol Pathol Lab, Christchurch, New Zealand

来源：

关键词：

MISSENSE MUTATION; SECRETION; IDENTIFICATION; VARIANTS; DOMAIN;

D O I：

10.1160/TH08-11-0727

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：980 / 982

页数：3