EB患者突变数据库 EB patients mutation database

EB Patient Detail Information
Patient ID 1
Gene1 COL7A1
Mutation1 c.1573C>T
Protein1,蛋白质变化1 p.Arg525X (p.R525X)
Effect1,突变的影响1 nonsense (stop codon), in exon 12
Gene2 COL7A1
Mutation2 c.7828C>T
Protein2,蛋白质变化2 p.Arg2610X (p.R2610X)
Effect2,突变的影响2 nonsense (stop codon), in exon 105
Inheritance,遗传模式 Recessive
Subtype,类型和亚型 RDEB-Severe
Gender,性别 Female
Ethnicity,种族民族 Chinese, Han
Clinical Age,检查检测时的年龄 3
Affected Area,皮损面积,如generalized, pretibial generalized
Blister, 有无水疱及严重程度 generalized
Milia,粟丘疹有无,多少,位置 yes
Atrophic Scar,有无萎缩性疤痕 yes
Keratoderma,有无角化过度 feet
Nail,甲是否缺失及发育不良 absent
Hand,是否有并指
Cocon Hand,是否有茧套状并指 no
Feet,脚趾是否并指 2 toes pseudosyndactyly
Granulation,伤口表面是否有肉芽增生 no
Anemia,是否有贫血及严重程度 medium
Oral Erosion,口腔溃疡情况 present
Teeth,龋齿,釉质缺失,脱落等情况 decayed
Genitourinary Tract,有无尿道狭窄,疼痛 normal
Respiratory Tract,有无嘶哑的情况 normal
SCC,有无鳞状细胞癌,数量,位置 no
Hair Loss,少发,脱发 no
Itch,有无瘙痒及严重程度 serious itch
Swallow,有无吞咽困难 affected
Others,其它特别的情况 VII型胶原单克隆抗体(LH7:2)的间接免疫荧光检查示阴性
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