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  • 1-10 ل  668 نتائج ل ""Point Mutation""
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Academic Journal

Efficient correction of a deleterious point mutation in primary horse fibroblasts with CRISPR-Cas9.

  • Authors : Pinzon-Arteaga C; Department of Veterinary Physiology and Pharmacology, Texas A&M University, College Station, Texas, USA.; Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

Subjects: CRISPR-Cas Systems* ; Exons* ; Gene Editing*

  • Source: Scientific reports [Sci Rep] 2020 May 04; Vol. 10 (1), pp. 7411. Date of Electronic Publication: 2020 May 04.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Lower starting dose of afatinib for the treatment of metastatic lung adenocarcinoma harboring exon 21 and exon 19 mutations.

  • Authors : Chen YC; Department of Pharmacy, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.; Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

Subjects: Gene Deletion* ; Point Mutation*; Adenocarcinoma of Lung/Adenocarcinoma of Lung/Adenocarcinoma of Lung/*drug therapy

  • Source: BMC cancer [BMC Cancer] 2021 May 03; Vol. 21 (1), pp. 495. Date of Electronic Publication: 2021 May 03.Publisher: BioMed Central Country of Publication: England NLM ID: 100967800 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2407

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Academic Journal

A new HLA-B*55 allele, B*55:83N with a stop codon in exon 4 generated by a point mutation, identified in a Chinese individual.

  • Authors : Zhou XY; The MOH Key Laboratory of Geriatrics, Beijing Hospital, National Center of Gerontology, Beijing, China.; Jiang P

Subjects: Alleles* ; Exons* ; Point Mutation*

  • Source: HLA [HLA] 2017 Feb; Vol. 89 (2), pp. 119-120.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print Cited Medium: Internet ISSN: 2059-2310

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Academic Journal

A single nucleotide substitution in exon 5 generated the novel KIR2DL3*00112 allele.

  • Authors : Li Y; Immunogenetics Laboratory, Shenzhen Blood Center, Shenzhen, China.; Deng Z

Subjects: Receptors, KIR2DL3*/Receptors, KIR2DL3*/Receptors, KIR2DL3*/genetics ; Alleles* ; Exons*

  • Source: HLA [HLA] 2024 Jun; Vol. 103 (6), pp. e15557.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print Cited Medium: Internet ISSN: 2059-2310

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Academic Journal

Somatic mutation of HLA-DRB1*04:03 in a patient with myelodysplastic syndrome at diagnosis.

  • Authors : Park S; Department of Laboratory Medicine, Ewha Womans University, College of Medicine, Seoul, South Korea.; Jeong TD

Subjects: Exons* ; Point Mutation*; HLA-DRB1 Chains/HLA-DRB1 Chains/HLA-DRB1 Chains/*genetics

  • Source: HLA [HLA] 2019 Apr; Vol. 93 (4), pp. 216-219. Date of Electronic Publication: 2019 Mar 13.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report.

  • Authors : Wang J; Department of Endocrinology and Metabolism, The First Hospital of Lanzhou University, Lanzhou, Gansu 730000, P.R. China.; Lv H

Subjects: Exons* ; Point Mutation*; Thyroid Hormone Receptors beta/Thyroid Hormone Receptors beta/Thyroid Hormone Receptors beta/*genetics

  • Source: Molecular medicine reports [Mol Med Rep] 2019 Nov; Vol. 20 (5), pp. 4683-4687. Date of Electronic Publication: 2019 Sep 24.Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Characterization of the novel HLA-DQB1*03:02:01:08 allele by sequencing-based typing.

  • Authors : Ralazamahaleo M; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Bordeaux, France.; Elsermans V

Subjects: Alleles* ; Codon* ; Exons*

  • Source: HLA [HLA] 2019 Sep; Vol. 94 (3), pp. 335-336. Date of Electronic Publication: 2019 May 26.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Characterization of the novel HLA-DQA1*01:22 allele by sequencing-based typing.

  • Authors : Cargou M; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Bordeaux, France.; UMR CNRS 5164 Immunoconcept, Université de Bordeaux, Bordeaux, France.

Subjects: Alleles* ; Codon* ; Exons*

  • Source: HLA [HLA] 2019 Sep; Vol. 94 (3), pp. 333-334. Date of Electronic Publication: 2019 May 26.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor.

  • Authors : Catalano M; S.Camillo-Forlanini Hospital, Medical Genetics Laboratory, Sapienza University, Rome, Italy.; Preziosi N

Subjects: Alleles* ; Exons* ; Hematopoietic Stem Cells*

  • Source: HLA [HLA] 2019 Apr; Vol. 93 (4), pp. 232-233. Date of Electronic Publication: 2019 Feb 03.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification of three new HLA alleles in the Spanish population: HLA-C*05:203, C*15:10:04 and DRB1*01:99.

  • Authors : Balas A; Departamento de Histocompatibilidad, Centro de Transfusión de la Comunidad de Madrid, Madrid, Spain.; Planelles D

Subjects: Alleles* ; Exons* ; Point Mutation*

  • Source: HLA [HLA] 2019 Apr; Vol. 93 (4), pp. 234-235. Date of Electronic Publication: 2019 Feb 19.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 ل  668 نتائج ل ""Point Mutation""