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Academic Journal

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.

  • Authors : Khorrami A; Young Researchers and Elit Club, Varamin-Pishva Branch, Islamic Azad University, Varamin-Pishva, Iran.; Goleij P

Subjects: Laminin/Laminin/Laminin/*genetics ; Muscular Dystrophies/Muscular Dystrophies/Muscular Dystrophies/*genetics ; Mutation, Missense/Mutation, Missense/Mutation, Missense/*geneticsMuscular dystrophy congenital, merosin negative

  • Source: Journal of clinical laboratory analysis [J Clin Lab Anal] 2021 Nov; Vol. 35 (11), pp. e23930. Date of Electronic Publication: 2021 Sep 16.Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for ocular squamous cell carcinoma in Belgian horses.

  • Authors : Knickelbein KE; Veterinary Medical Teaching Hospital, University of California-Davis, Davis, California, USA.; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.

Subjects: Genetic Predisposition to Disease* ; Mutation, Missense*; Carcinoma, Squamous Cell/Carcinoma, Squamous Cell/Carcinoma, Squamous Cell/*veterinary

  • Source: Equine veterinary journal [Equine Vet J] 2020 Jan; Vol. 52 (1), pp. 34-40. Date of Electronic Publication: 2019 Apr 15.Publisher: Wiley Country of Publication: United States NLM ID: 0173320 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity).

  • Authors : Torkamandi S; Department of Medical Genetics and Immunology, Faculty of Medicine, Urmia University of Medical Sciences, Urmia, Iran.; Rezaei S

Subjects: Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics ; Wolfram Syndrome/Wolfram Syndrome/Wolfram Syndrome/*genetics

  • Source: Journal of clinical laboratory analysis [J Clin Lab Anal] 2020 Aug; Vol. 34 (8), pp. e23358. Date of Electronic Publication: 2020 May 17.Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Single nucleotide variations encoding missense mutations in G protein-coupled receptors may contribute to autism.

  • Authors : van der Westhuizen ET; Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.

Subjects: Receptors, G-Protein-Coupled*/Receptors, G-Protein-Coupled*/Receptors, G-Protein-Coupled*/genetics ; Receptors, G-Protein-Coupled*/Receptors, G-Protein-Coupled*/Receptors, G-Protein-Coupled*/metabolism ; Mutation, Missense*

  • Source: British journal of pharmacology [Br J Pharmacol] 2024 Jul; Vol. 181 (14), pp. 2158-2181. Date of Electronic Publication: 2023 Mar 12.Publisher: Wiley Country of Publication: England NLM ID: 7502536 Publication Model: Print-Electronic Cited Medium:

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Report

Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.

  • Authors : Sagi-Dain L; The Human Genetics institute, Carmel Medical Center, Haifa, Israel.; Shemer L

Subjects: Mutation, Missense*; Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/*genetics ; Methionine-tRNA Ligase/Methionine-tRNA Ligase/Methionine-tRNA Ligase/*genetics

  • Source: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2018 Jun; Vol. 23 (2), pp. 138-142. Date of Electronic Publication: 2018 May 09.Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.

  • Authors : Hu B; Department of Neurology, Center for Human Genetic Research and Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, TN.; Wang M

Subjects: Mutation, Missense*; Apoptosis Inducing Factor/Apoptosis Inducing Factor/Apoptosis Inducing Factor/*genetics ; Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/*genetics

  • Source: European journal of neurology [Eur J Neurol] 2017 Dec; Vol. 24 (12), pp. 1499-1506. Date of Electronic Publication: 2017 Oct 07.Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia.

  • Authors : Li X; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.; Orseth ML

Subjects: Ectodermal Dysplasia/Ectodermal Dysplasia/Ectodermal Dysplasia/*genetics ; Homeodomain Proteins/Homeodomain Proteins/Homeodomain Proteins/*genetics ; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics

  • Source: Pediatric dermatology [Pediatr Dermatol] 2017 Mar; Vol. 34 (2), pp. 172-175.Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print Cited Medium: Internet

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Academic Journal

Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.

Subjects: Genetic Predisposition to Disease* ; Infant, Premature* ; Mutation, Missense*

  • Source: Pediatric dermatology [Pediatr Dermatol] 2015 Mar-Apr; Vol. 32 (2), pp. e42-7. Date of Electronic Publication: 2015 Jan 30.Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).

  • Authors : Lambrecht C; Department of Dermatology, University Hospitals Leuven, Leuven, Belgium.; Wouters C

Subjects: Mutation, Missense*; Alopecia/Alopecia/Alopecia/*genetics ; Chondrodysplasia Punctata/Chondrodysplasia Punctata/Chondrodysplasia Punctata/*genetics

  • Source: Pediatric dermatology [Pediatr Dermatol] 2014 Jul-Aug; Vol. 31 (4), pp. 493-6. Date of Electronic Publication: 2014 Jun 11.Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.

  • Authors : Hu FY; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.; Department of Neurology, Renmin Hospital, Yunyang Medical College, Shiyan, Hubei Province, China.

Subjects: Mutation, Missense*; GTP Cyclohydrolase/GTP Cyclohydrolase/GTP Cyclohydrolase/*genetics; Adolescent Dystonia, Dopa-responsive

  • Source: European journal of neurology [Eur J Neurol] 2011 Feb; Vol. 18 (2), pp. 362-364.Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN:

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  • 1-10 of  753 results for ""MISSENSE mutation""