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Publisher : mary ann liebert, inc Subject : mutation
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Academic Journal

Generation of Human-Induced Pluripotent Stem Cells from Wolfram Syndrome Type 2 Patients Bearing the c.103 + 1G>A CISD2 Mutation for Disease Modeling.

  • Authors : La Spada A; 1 Institute of Genetic and Biomedical Research , National Research Council (IRGB-CNR), Department of Biomedicine, Milan, Italy .; Ntai A

Subjects: Mutation*; Aging, Premature/Aging, Premature/Aging, Premature/*genetics ; Hearing Loss, Sensorineural/Hearing Loss, Sensorineural/Hearing Loss, Sensorineural/*genetics Wolfram Syndrome 2

  • Source: Stem cells and development [Stem Cells Dev] 2018 Feb 15; Vol. 27 (4), pp. 287-295. Date of Electronic Publication: 2018 Jan 22.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101197107 Publication Model: Print-Electronic

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Academic Journal

STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.

  • Authors : Marková SP; 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Motol University Hospital, Charles University in Prague , Prague, Czech Republic .; Brožková DŠ

Subjects: Mutation*; Hearing Loss/Hearing Loss/Hearing Loss/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2018 Feb; Vol. 22 (2), pp. 127-134.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited

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Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients.

Subjects: Mutation*; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Muscle Proteins/Muscle Proteins/Muscle Proteins/*genetics

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2010 Feb; Vol. 14 (1), pp. 153-4.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited

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Academic Journal

Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases.

  • Authors : Bevilacqua JA; Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago, Chile. ; Krahn M

Subjects: Mutation*; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Muscle Proteins/Muscle Proteins/Muscle Proteins/*genetics

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2009 Feb; Vol. 13 (1), pp. 105-8.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited

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Academic Journal

HFE genotype frequencies in consecutive reference laboratory specimens: comparisons among referral sources and association with initial diagnosis.

  • Authors : Acton RT; Immunogenetics Program, Department of Microbiology, University of Alabama at Birmingham, AL 35294, USA. ; Barton JC

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Genetic Testing*/Genetic Testing*/Genetic Testing*/standards ; Membrane Proteins*

  • Source: Genetic testing [Genet Test] 2001 Winter; Vol. 5 (4), pp. 299-306.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

Geography of HFE C282Y and H63D mutations.

Subjects: Membrane Proteins* ; Mutation*; HLA Antigens/HLA Antigens/HLA Antigens/*genetics

  • Source: Genetic testing [Genet Test] 2000; Vol. 4 (2), pp. 183-98.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

Large-scale screening for HFE mutations: methodology and cost.

  • Authors : Beutler E; The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA 92037, USA. ; Gelbart T

Subjects: Membrane Proteins* ; Mutation*; HLA Antigens/HLA Antigens/HLA Antigens/*genetics

  • Source: Genetic testing [Genet Test] 2000; Vol. 4 (2), pp. 131-42.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

Novel method for molecular detection of the two common hereditary hemochromatosis mutations.

  • Authors : Kaler SG; Children's National Medical Center, Washington, DC 20010, USA.; Devaney JM

Subjects: Membrane Proteins* ; Mutation*; HLA Antigens/HLA Antigens/HLA Antigens/*genetics

  • Source: Genetic testing [Genet Test] 2000; Vol. 4 (2), pp. 125-9.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

Detection of an unusual combination of mutations in the HFE gene for hemochromatosis.

  • Authors : Thorstensen K; Department of Clinical Chemistry, Trondheim University Hospital, Norway. ; Asberg A

Subjects: Membrane Proteins*; HLA Antigens/HLA Antigens/HLA Antigens/*genetics ; Hemochromatosis/Hemochromatosis/Hemochromatosis/*genetics

  • Source: Genetic testing [Genet Test] 2000; Vol. 4 (4), pp. 371-6.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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Academic Journal

Uncommon mutations and polymorphisms in the hemochromatosis gene.

  • Authors : Pointon JJ; MRC Molecular Haematology Unit, Institute Molecular Medicine, Headington, Oxford, UK. ; Wallace D

Subjects: Membrane Proteins* ; Mutation* ; Polymorphism, Genetic*

  • Source: Genetic testing [Genet Test] 2000; Vol. 4 (2), pp. 151-61.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium:

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  • 1-10 of  17 results for ""Membrane Proteins""