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中文
一段8.9千碱基的人类基因片段被微注射到单细胞胚胎中。这个基因版本有一个T>A的突变，导致编码肽的Leu68位点变为Gln。这种突变存在于HCHWA-I型的冰岛家族性脑出血伴有淀粉样变的患者中。（来源：J:269038）
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
