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Academic Journal

A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.

Subjects: Mutation, Missense*; Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*genetics ; Motor Neurons/Motor Neurons/Motor Neurons/*metabolism

  • Source: Human mutation [Hum Mutat] 2013 Jul; Vol. 34 (7), pp. 953-60. Date of Electronic Publication: 2013 May 28.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The Pro12Ala PPARgamma2 gene missense mutation is associated with obesity and insulin resistance in Swedish middle-aged men.

  • Authors : Rosmond R; Department of Clinical Chemistry, Sahlgrenska University Hospital, Göteborg, Sweden. ; Chagnon M

Subjects: Mutation, Missense* ; Obesity*; Diabetes Mellitus/Diabetes Mellitus/Diabetes Mellitus/*genetics

  • Source: Diabetes/metabolism research and reviews [Diabetes Metab Res Rev] 2003 Mar-Apr; Vol. 19 (2), pp. 159-63.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 100883450 Publication Model: Print Cited Medium: Print ISSN: 1520-7552 (Print)

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Academic Journal

Mutations in the genes for keratin-4 and keratin-13 in Swedish patients with white sponge nevus.

Subjects: *KERATIN genetics; *MISSENSE mutation; *EPITHELIUMSWEDEN

  • Source: Journal of Oral Pathology & Medicine. Feb2018, Vol. 47 Issue 2, p152-157. 6p. 2 Color Photographs, 1 Diagram, 1 Chart.

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Academic Journal

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

  • Authors : von Salomé J; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden.; Liu T

Subjects: Mutation, Missense*; Colorectal Neoplasms, Hereditary Nonpolyposis/Colorectal Neoplasms, Hereditary Nonpolyposis/Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics ; Haplotypes/Haplotypes/Haplotypes/*genetics

  • Source: Familial cancer [Fam Cancer] 2018 Oct; Vol. 17 (4), pp. 531-537.Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print Cited Medium: Internet ISSN: 1573-7292

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Academic Journal

p53 is associated with high-risk and pinpoints TP53 missense mutations in mantle cell lymphoma.

Subjects: Cell Proliferation* ; Databases, Factual* ; Gene Expression Regulation, Neoplastic*

  • Source: British journal of haematology [Br J Haematol] 2020 Dec; Vol. 191 (5), pp. 796-805. Date of Electronic Publication: 2020 Aug 04.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Evaluation of a screening program for iron overload and HFE mutations in 50,493 blood donors.

  • Authors : Eckerström C; Department of Immunology and Transfusion medicine Region, Sahlgrenska University Hospital, Västra Götaland, Sweden. .; Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden. .

Subjects: Blood Donors* ; Mutation, Missense*; Donor Selection/Donor Selection/Donor Selection/*methods

  • Source: Annals of hematology [Ann Hematol] 2020 Oct; Vol. 99 (10), pp. 2295-2301. Date of Electronic Publication: 2020 Aug 26.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Editorial & Opinion

Prevalence and in silico analysis of missense mutations in the PROS1 gene in the Swedish population: The SweGen dataset.

  • Authors : Zöller B; Center for Primary Health Care Research, Lund University and Region Skåne, Malmö, Sweden. Electronic address: .

Subjects: Mutation, Missense*; Blood Proteins/Blood Proteins/Blood Proteins/*genetics; Humans

  • Source: Thrombosis research [Thromb Res] 2018 Aug; Vol. 168, pp. 28-30. Date of Electronic Publication: 2018 Jun 02.Publisher: Pergamon Press Country of Publication: United States NLM ID: 0326377 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Quinolone resistance mutations in the faecal microbiota of Swedish travellers to India.

  • Authors : Johnning A; Department of Infectious Diseases, Institute of Biomedicine, University of Gothenburg, Guldhedsgatan 10, SE-413 46, Gothenburg, Sweden. .; Department of Mathematical Sciences, Chalmers University of Technology, SE-412 96, Gothenburg, Sweden. .

Subjects: Drug Resistance, Bacterial* ; Mutation, Missense* ; Travel*

  • Source: BMC microbiology [BMC Microbiol] 2015 Oct 24; Vol. 15, pp. 235. Date of Electronic Publication: 2015 Oct 24.Publisher: BioMed Central Country of Publication: England NLM ID: 100966981 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2180

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Academic Journal

Frequency of the transthyretin Val30Met mutation in the northern Swedish population.

  • Authors : Olsson M; Department of Public Health and Clinical Medicine, Umeå University , Umeå , Sweden and.; Jonasson J

Subjects: Mutation, Missense*; Amyloid Neuropathies, Familial/Amyloid Neuropathies, Familial/Amyloid Neuropathies, Familial/*genetics ; Prealbumin/Prealbumin/Prealbumin/*geneticsAmyloidosis, Hereditary, Transthyretin-Related

  • Source: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis [Amyloid] 2014 Mar; Vol. 21 (1), pp. Publisher: Taylor & Francis Country of Publication: England NLM ID: 9433802 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  147 results for ""MISSENSE mutation""