10 research outputs found

    Additional file 1: of Distribution and features of hematological malignancies in Eastern Morocco: a retrospective multicenter study over 5 years

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    Includes two tables: (Table S1) showing the distribution and male to female ratio of hematological malignancies by age group in Eastern Morocco for the study period, and (Table S2) showing the Age-group specific distribution of hematological malignancies in Eastern Morocco, 2008-2012. (PDF 32 kb

    Schematic representation of the mutations responsible for non-syndromic hearing loss, in the TBC1D24 protein.

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    <p>The TDC and TLBc functional domains are represented on the TBC1D24 protein structure. The amino-acid changes identified in this work (in bold) and the published recessive and dominant mutations responsible for NHSL are shown on the top, while mutations responsible for DOORS syndrome, familial infantile myoclonic epilepsy, progressive myoclonus epilepsy and early-infantile epileptic encephalopathy-16 are shown below the protein structure.</p

    Mutations in <i>TBC1D24</i> segregate with non-syndromic hearing loss.

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    <p>(A) Pedigrees of the two families are shown with the segregation of the mutations identified in <i>TBC1D24</i>. (B) Electrophoregrams showing the 4 heterozygote mutations identified in this work. C) Alignments of TBC1D24 sequences around the 4 mutated amino acids highlighted by red rectangles (<i>H</i>.<i>s</i>.: <i>Homo sapiens</i>; <i>M</i>.<i>m</i>.: <i>Mus musculus</i>; <i>G</i>.<i>g</i>.: <i>Gallus gallus</i>; X.l.: <i>Xenopus laevis</i>; D.r.: <i>Danio rerio</i>).</p

    Characteristics of the novel mutations identified in <i>TBC1D24</i> gene.

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    <p>For each mutation, its position in the cDNA is given, as well as the amino-acid change, its reference number in NCBI database (rs ID), its frequency in NCBI and Exome Variant Server (EVS) database, and the predicted Sift, Polyphen-2 and Mutation Taster scores.</p><p>Characteristics of the novel mutations identified in <i>TBC1D24</i> gene.</p
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