Biblioteca Digital

8 resultados para Deletion mutation

em School of Medicine, Washington University, United States

Period2 gene deletion abolishes αMelanocyte stimulating hormone response to ethanol

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A knock-in mouse model for the R120G mutation of alphaBcrystallin recapitulates human hereditary myopathy and cataracts

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A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria

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Pigment pattern in jaguar/obelix zebrafish is caused by a Kir7.1 mutation: Implications for the regulation of melanosome movement

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Three-dimensional organization of basal bodies from wild-type and δ-tubulin deletion strains of Chlamydomonas reinhardtii

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αA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice

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Mutation of sec63 in zebrafish causes defects in myelinated axons and liver pathology

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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

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