Lv3
360 积分 2025-02-13 加入
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families
1天前
已关闭
46,XX disorder of sex development associated with skin abnormalities due to homozygous R-Spondin 1 loss of function mutation
2天前
求助中
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
2天前
已完结
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue
4天前
已完结
Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease
6天前
已关闭
Familial Antithrombin III Deficiency
7天前
已完结
CpG dinucleotides are "hotspots" for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction
8天前
已关闭
High cumulative risk of colorectal cancers and desmoid tumours and fibromatosis in South Asian APC mutation carriers
8天前
已关闭
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl
12天前
已关闭
[Molecular basis of hereditary antithrombin defects in 10 Czech families]
12天前
已关闭
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