SLNSW-Haploinsufficiency of Telomerase Reverse Transcri...-TN_cdi_jstor_primary_4143307

Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita

Full title: Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita

Author/creator: Mary Armanios, Chen, Jiunn-Liang, Yen-Pei Christy Chang, Brodsky, Robert A., Anita Hawkins, Griffin, Constance A., James R. Eshleman, Cohen, Alan R., Chakravarti, Aravinda, Hamosh, Ada, Greider, Carol W..

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Record Identifier: TN_cdi_jstor_primary_4143307

Language: English

Formats: Articles

Publishers: United States: National Academy of Sciences

Permalink: https://collection.sl.nsw.gov.au/record/TN_cdi_jstor_primary_4143307

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    Record title

    Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita

    Record identifier

    TN_cdi_jstor_primary_4143307

    Record permalink

    https://collection.sl.nsw.gov.au/record/TN_cdi_jstor_primary_4143307

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    Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita

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    https://collection.sl.nsw.gov.au/record/TN_cdi_jstor_primary_4143307

    Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita

    Full title

    Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita

    Author / Creator

    Mary Armanios ; Chen, Jiunn-Liang ; Yen-Pei Christy Chang ; Brodsky, Robert A. ; Anita Hawkins ; Griffin, Constance A. ; James R. Eshleman ; Cohen, Alan R. ; Chakravarti, Aravinda ; Hamosh, Ada ; Greider, Carol W.

    Publisher

    United States: National Academy of Sciences

    Journal title

    Proceedings of the National Academy of Sciences - PNAS, 2005, Vol.102 (44), p.15960-15964

    Record Identifier

    TN_cdi_jstor_primary_4143307

    Language

    English

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    Articles

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    Subjects and topics

    Abnormalities Adolescent Adult Anticipation, Genetic Aplastic anemia Biological Sciences Bone marrow Cell Proliferation Child Child, Preschool Disease DNA-Binding Proteins - deficiency DNA-Binding Proteins - genetics Dyskeratosis congenita Dyskeratosis Congenita - etiology Dyskeratosis Congenita - genetics Epithelial cells Family Health Female Fibrosis Gene Dosage Genes Genes, Dominant - genetics Genetic aspects Genetic mutation Genetics Genotype & phenotype Haploinsufficiency Haplotypes hTERT Humans Liver Male Middle Aged Mutation Pedigree Phenotype Phenotypes Polymerase chain reaction Ribonucleic acid RNA Telomerase Telomerase - deficiency Telomerase - genetics telomere Telomere - ultrastructure Telomeres

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    TN_cdi_jstor_primary_4143307

    Permalink

    https://collection.sl.nsw.gov.au/record/TN_cdi_jstor_primary_4143307

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