Tandem repeat sequencing in XLID. Tandem repeat sequencing in XLID
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Tandem repeat sequencing in XLID
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2017-09-05
相关数据集
Table_1_Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.XLSX
Families with multiple male children with intellectual disability (ID) are usually suspected of having disease due to a X-linked mode of inheritance and genetic studies focus on analysis of segregatin
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Array-CGH analysis of X chromosome of XLMR patient
Array-CGH analysis of X chromosome of XLMR patient Keywords: comparative genomic hybridization Comparison of 6 patient samples in 2 dyes; samples XY1, Xy2, and XY3 can be considered as control samples
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Additional file 10: of Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability
Genotypes obtained from the sequencing data of the targeted tandem repeats in three families with X-linked intellectual disability. (XLSX 2711 kb)
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Supplementary Material for: Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review
Introduction: The X-chromosomal USP9X gene encodes a deubiquitylating enzyme involved in protein turnover and TGF-β signaling during fetal and neuronal development. USP9X variants in females are prima
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (zebrafish). Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (zebrafish)
Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original
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