一名马凡综合征患者中纤连蛋白的一种新错义突变。
A new missense mutation of fibrillin in a patient with Marfan syndrome.
作者信息
Hewett D R, Lynch J R, Child A, Sykes B C
机构信息
Collagen Genetics Group, University of Oxford, John Radcliffe Hospital, Headington, UK.
出版信息
J Med Genet. 1994 Apr;31(4):338-9. doi: 10.1136/jmg.31.4.338.
Abstract
A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result in a cysteine to tyrosine substitution at amino acid 1223 in the fibrillin protein.
摘要
一名马凡综合征患者被证明在原纤维蛋白-1（FBN1）基因的第3952位核苷酸处存在G到A的转换杂合突变。这将导致原纤维蛋白中第1223位氨基酸由半胱氨酸替换为酪氨酸。
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