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Metabolism of Non-Translatable Globin mRNAs Arising from Premature Translation Termination Codons.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 612, n. 1, p. 55, doi. 10.1111/j.1749-6632.1990.tb24290.x
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- Article
Single Base Mutation in the Type III Procollagen Gene That Converts the Codon for Glycine 883 to Aspartate in a Proband with Mild Symptoms of Ehlers-Danlos Syndrome IV<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 580, n. 1, p. 558, doi. 10.1111/j.1749-6632.1990.tb17991.x
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- Article
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: Utility of genome-wide SNP array.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 166, doi. 10.1002/ajmg.a.35625
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- Article
Mung Bean Nuclease Treatment Increases Capture Specificity of Microdroplet-PCR Based Targeted DNA Enrichment.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0103491
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- Article
Pheochromocytoma in von Hippel-Lindau Disease: Clinical Presentation and Mutation Analysis in a Large, Multigenerational Kindred*.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 1, p. 117, doi. 10.1210/jcem.83.1.4479
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- Publication type:
- Article
Phenotypic Overlap between Familial Aneurysms and Ehlers-Danlos Syndrome Type IV Resulting from a Type III Procollagen Gene Mutation.
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- Annals of the New York Academy of Sciences, 1996, v. 800, n. 1, p. 294, doi. 10.1111/j.1749-6632.1996.tb33336.x
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- Publication type:
- Article
Multiple Defects in Type III Collagen Synthesis Are Associated with the Pathogenesis of Abdominal Aortic Aneurysmsa.
- Published in:
- Annals of the New York Academy of Sciences, 1996, v. 800, n. 1, p. 216, doi. 10.1111/j.1749-6632.1996.tb33312.x
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- Publication type:
- Article
Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma.
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- Oncogene, 2002, v. 21, n. 3, p. 479, doi. 10.1038/sj.onc.1205133
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- Publication type:
- Article
A novel Indian β-thalassemia mutation in the CACCC box of the promoter region.
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- European Journal of Haematology, 2006, v. 77, n. 6, p. 530, doi. 10.1111/j.0902-4441.2006.t01-1-EJH2923.x
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- Publication type:
- Article
Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel–Lindau disease.
- Published in:
- Cancer Science, 2006, v. 97, n. 5, p. 400, doi. 10.1111/j.1349-7006.2006.00193.x
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- Article
Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene.
- Published in:
- 2002
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- Publication type:
- journal article
An Expanded Role for HLA Genes: HLA-B Encodes a microRNA that Regulates IgA and Other Immune Response Transcripts.
- Published in:
- Frontiers in Immunology, 2017, v. 8, p. 1, doi. 10.3389/fimmu.2017.00583
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- Article
Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.
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- Genes, Chromosomes & Cancer, 2011, v. 50, n. 6, p. 466, doi. 10.1002/gcc.20872
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- Publication type:
- Article
Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
- Published in:
- Movement Disorders, 2008, v. 23, n. 9, p. 1303, doi. 10.1002/mds.22012
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- Article
Mutations in the human TWIST gene.
- Published in:
- Human Mutation, 2000, v. 15, n. 5, p. 479, doi. 10.1002/(SICI)1098-1004(200005)15:5<479::AID-HUMU11>3.0.CO;2-X
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- Article
Mutations in the human TWIST gene.
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- Human Mutation, 2000, v. 15, n. 2, p. 150, doi. 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D
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- Publication type:
- Article
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
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- Human Mutation, 1998, v. 12, n. 6, p. 417, doi. 10.1002/(SICI)1098-1004(1998)12:6<417::AID-HUMU8>3.0.CO;2-K
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- Publication type:
- Article
Recurrent COL3A1 mutation results in EDS IV or familial aneurysms.
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- Human Mutation, 1997, v. 9, n. 5, p. 475, doi. 10.1002/(SICI)1098-1004(1997)9:5<475::AID-HUMU18>3.0.CO;2-#
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- Publication type:
- Article
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
- Published in:
- Human Mutation, 1997, v. 9, n. 1, p. 62, doi. 10.1002/(SICI)1098-1004(1997)9:1<62::AID-HUMU11>3.0.CO;2-N
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- Publication type:
- Article
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 116, doi. 10.1002/humu.1380060204
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- Publication type:
- Article