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    Glossary Sanger sequencing

    determines DNA sequence by incorporating chain-terminating nucleotides during replication

    Sanger sequencing, also known as chain termination sequencing, is a method used to determine the precise order of nucleotides in a DNA molecule. It involves copying the DNA in a way that incorporates special molecules called dideoxynucleotides, which stop the copying process at specific points, allowing scientists to piece together the sequence by analyzing the resulting fragments. This technique has been fundamental in genetic research and diagnostics.

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    1. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    2. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    3. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes 2017 · 4 citations
    4. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    5. Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families ˜The œjournal of gene medicine · 2020 · 3 citations
    6. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    7. Heterozygous deletion of the <i>NSDHL</i> gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi Animal Genetics · 2024 · 1 citations
    8. Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis Journal of dermatology · 2020 · 1 citations
    9. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    10. A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter JAAD case reports · 2023
    11. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    12. Pseudallescheria boydii infection associated with IgG4-related disease European Journal of Dermatology · 2022 · 3 citations
    13. Post SARS-CoV-2 vaccination effluvium European Journal of Dermatology · 2022
    14. Identification and characterization of genes for skin and hair disorders bonndoc (University of Bonn) · 2026
    15. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    16. Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features American Journal of Medical Genetics Part A · 2018 · 39 citations
    17. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    18. Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum Neurodegenerative Diseases · 2018 · 7 citations
    19. PERBANDINGAN ARMS-PCR DAN ALLELE-SPECIFIC PCR DALAM OPTIMASI GENOTIPING SNP rs1998076 Ebers Papyrus · 2026
    20. A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family BMC Pregnancy and Childbirth · 2025
    21. Transcriptome sequencing and identification of cytochrome P450 monooxygenases involved in the biosynthesis of maslinic acid and corosolic acid in <i>Avicennia marina</i> Plant Biotechnology · 2018 · 10 citations
    22. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    23. Fibroblast heterogeneity and functions: insights from single-cell sequencing in wound healing, breast cancer, ovarian cancer and melanoma Frontiers in genetics · 2024
    24. Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice bioRxiv (Cold Spring Harbor Laboratory) · 2018
    25. Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis PLoS ONE · 2013 · 18 citations
    26. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    27. In vivo transcriptional governance of hair follicle stem cells by canonical Wnt regulators Nature Cell Biology · 2014 · 173 citations
    28. Dissecting the microenvironment around biosynthetic scaffolds in murine skin wound healing Science Advances · 2021 · 66 citations
    29. Comprehensive RNA sequencing in primary murine keratinocytes and fibroblasts identifies novel biomarkers and provides potential therapeutic targets for skin-related diseases Cellular & Molecular Biology Letters · 2021 · 17 citations
    30. Synchronous profiling and analysis of mRNAs and ncRNAs in the dermal papilla cells from cashmere goats BMC genomics · 2019 · 17 citations