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A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

• Authors : Lamont RE; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.

Subjects: Frameshift Mutation* ; Genetic Association Studies* ; Phenotype*

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Mar; Vol. 173 (3), pp. 596-600. Date of Electronic Publication: 2016 Sep 27.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype.

• Authors : Stone, William; Strege, Chloe; Miller, William

• Source: PLoS ONE. May 9, 2024, Vol. 19 Issue 5, e0302991.

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A frameshift mutation in Disrupted in Schizophrenia 1 in an American family with schizophrenia and schizoaffective disorder.

• Authors : Sachs NA; Division of Neurobiology, Department of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Sawa A

Subjects: Frameshift Mutation*; Nerve Tissue Proteins/Nerve Tissue Proteins/Nerve Tissue Proteins/*genetics ; Psychotic Disorders/Psychotic Disorders/Psychotic Disorders/*genetics

• Source: Molecular psychiatry [Mol Psychiatry] 2005 Aug; Vol. 10 (8), pp. 758-64.Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print Cited Medium: Print

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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.

• Authors : Prasov L; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA. .; Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109, USA. .

Subjects: Eye Diseases, Hereditary/Eye Diseases, Hereditary/Eye Diseases, Hereditary/*genetics ; Frameshift Mutation/Frameshift Mutation/Frameshift Mutation/*genetics ; Hyperopia/Hyperopia/Hyperopia/*genetics Hyperopia, High

• Source: Scientific reports [Sci Rep] 2020 Nov 17; Vol. 10 (1), pp. 19986. Date of Electronic Publication: 2020 Nov 17.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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A Frameshift Mutation in the Mg-Chelatase I Subunit Gene OsCHLI Is Associated with a Lethal Chlorophyll-Deficient, Yellow Seedling Phenotype in Rice.

• Authors : Shim, Kyu-Chan; Kang, Yuna; Song, Jun-Ho

• Source: Plants. July, 2023, Vol. 12 Issue 15.

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Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.

• Authors : Lohr NJ; Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, Aurora, CO, USA.; Molleston JP

Subjects: Frameshift Mutation*; Autoimmune Diseases/Autoimmune Diseases/Autoimmune Diseases/*enzymology ; Autoimmune Diseases/Autoimmune Diseases/Autoimmune Diseases/*genetics

• Source: American journal of human genetics [Am J Hum Genet] 2010 Mar 12; Vol. 86 (3), pp. 447-53. Date of Electronic Publication: 2010 Feb 18.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium:

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CHEK2:1100delC and female breast cancer in the United States.

• Authors : Mateus Pereira LH; Sigurdson AJ; Doody MM

Subjects: Frameshift Mutation* ; Genes, BRCA1* ; Genes, BRCA2*

• Source: International journal of cancer [Int J Cancer] 2004 Nov 10; Vol. 112 (3), pp. 541-3.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0042124 Publication Model: Print Cited Medium: Print

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Identification of BRCA1 germline mutation, 797delAA, in a Japanese breast-ovarian cancer patient.

• Authors : Schehl CM; Ostrander GK

Subjects: Frameshift Mutation* ; Genes, BRCA1*; Breast Neoplasms/Breast Neoplasms/Breast Neoplasms/*genetics

• Source: Journal of the National Cancer Institute [J Natl Cancer Inst] 1997 Oct 15; Vol. 89 (20), pp. 1547-8.Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print Cited

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Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.

• Authors : Hu PY; Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, MO 63104.; Ernst AR

Subjects: Frameshift Mutation*; Acidosis, Renal Tubular/Acidosis, Renal Tubular/Acidosis, Renal Tubular/*genetics ; Carbonic Anhydrases/Carbonic Anhydrases/Carbonic Anhydrases/*deficiency

• Source: American journal of human genetics [Am J Hum Genet] 1994 Apr; Vol. 54 (4), pp. 602-8.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print

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Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

• Authors : White MB; Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center (FCRDC), Frederick, Maryland.; Krueger LJ

Subjects: Frameshift Mutation*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

• Source: Genomics [Genomics] 1991 May; Vol. 10 (1), pp. 266-9.Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print Cited Medium:

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