A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

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A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

Mỹ Phương 80 5 .pdf

Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute kidney injury. | A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

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A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

Induced mutations in homozygous and heterozygous genotypes of soybean

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: A case report

Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: A case report

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors

High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females

Báo cáo y học: "Application of the comprehensive set of heterozygous yeast deletion mutants to elucidate the molecular basis of cellular chromium toxicity"

báo cáo khoa học: "changes of the homologues possible cause of abnormal disjunction in female mice heterozygous for Robertsonian translocations"

báo cáo khoa học: " High-throughput SNP genotyping in the highly heterozygous genome of Eucalyptus: assay success, polymorphism and transferability across species"

Micropropagation of the apricot (Prunus armeniaca L.) cv. Hacıhaliloğlu by means of single node culture

Prevalence of the IVS1(+1)G - A and 35delG mutations in the GJB2 gene of Turkish patients with nonsyndromic hearing loss

Đang chuẩn bị liên kết để tải về tài liệu: A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

Induced mutations in homozygous and heterozygous genotypes of soybean

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: A case report

Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: A case report

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors

High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females

Báo cáo y học: "Application of the comprehensive set of heterozygous yeast deletion mutants to elucidate the molecular basis of cellular chromium toxicity"

báo cáo khoa học: "changes of the homologues possible cause of abnormal disjunction in female mice heterozygous for Robertsonian translocations"

báo cáo khoa học: " High-throughput SNP genotyping in the highly heterozygous genome of Eucalyptus: assay success, polymorphism and transferability across species"

Micropropagation of the apricot (Prunus armeniaca L.) cv. Hacıhaliloğlu by means of single node culture

Prevalence of the IVS1(+1)G - A and 35delG mutations in the GJB2 gene of Turkish patients with nonsyndromic hearing loss

Đang chuẩn bị liên kết để tải về tài liệu:
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia