Lv4
500 积分 2026-02-09 加入
Platelet CD36 deficiency is present in 2.6% of Arabian individuals and can cause NAIT and platelet refractoriness
5天前
已完结
Incidence and molecular basis of CD36 deficiency in Shanghai population
5天前
已完结
Frequency of CD36 deficiency in Thais analyzed by quantification of CD36 on cell surfaces and in plasma
5天前
已完结
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression
6天前
已完结
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing #
6天前
已完结
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
6天前
已完结
Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na–Cl cotransporter mutations
1个月前
已完结
Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae
2个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
2个月前
已完结
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