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  1. Currently molecular diagnostic laboratories focus only on the identification of large deletion and duplication mutations (spanning one exon or more) for Duchenne Muscular Dystrophy (DMD) yielding 65% of causat...

    Authors: Richard R Bennett, Johan den Dunnen, Kristine F O'Brien, Basil T Darras and Louis M Kunkel

    Citation: BMC Genetics 2001 2:17

    Content type: Research article

    Published on:

  2. Two common southern African mice species, Mastomys coucha and M. natalensis, are widely distributed throughout the subregion and overlap in many areas. They also share a high degree of morphological similarity, m...

    Authors: Andre A Smit and Herman FH Van der Bank

    Citation: BMC Genetics 2001 2:15

    Content type: Research article

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  3. Genomic instability has been reported at microsatellite tracts in few coding sequences. We have shown that the Bloom syndrome BLM gene may be a target of microsatelliteinstability (MSI) in a short poly-adenine re...

    Authors: George Calin, Guglielmina N Ranzani, Dino Amadori, Vlad Herlea, Irina Matei, Giuseppe Barbanti-Brodano and Massimo Negrini

    Citation: BMC Genetics 2001 2:14

    Content type: Research article

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  4. The phylogeographic distribution of human mitochondrial DNA variations allows a genetic approach to the study of modern Homo sapiens dispersals throughout the world from a female perspective. As a new contributio...

    Authors: Nicole Maca-Meyer, Ana M González, José M Larruga, Carlos Flores and Vicente M Cabrera

    Citation: BMC Genetics 2001 2:13

    Content type: Research article

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  5. Little is known about genetic factors affecting intraocular pressure (IOP) in mice and other mammals. The purpose of this study was to determine the IOPs of genetically distinct mouse strains, assess the effec...

    Authors: Olga V Savinova, Fumihiro Sugiyama, Janice E Martin, Stanislav I Tomarev, Beverly J Paigen, Richard S Smith and Simon WM John

    Citation: BMC Genetics 2001 2:12

    Content type: Research article

    Published on:

  6. Blood group genotyping is increasingly utilized for prenatal diagnosis and after recent transfusions, but still lacks the specificity of serology. In whites, the presence of antigen D is predicted, if two or m...

    Authors: Franz F Wagner, Alexander Frohmajer and Willy A Flegel

    Citation: BMC Genetics 2001 2:10

    Content type: Research article

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  7. Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the symptoms associated with the disease...

    Authors: Natacha Dreumont, Jacques A Poudrier, Anne Bergeron, Harvey L Levy, Faouzi Baklouti and Robert M Tanguay

    Citation: BMC Genetics 2001 2:9

    Content type: Research article

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  8. Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated ...

    Authors: Yuji Mizuno, Annibale A Puca, Kristine F O'Brien, Alan H Beggs and Louis M Kunkel

    Citation: BMC Genetics 2001 2:8

    Content type: Research article

    Published on:

  9. An A54T polymorphism at the fatty acid binding protein 2 (FABP2) locus was found to be associated with insulin resistance in non-diabetic Pima Indians. To see whether this association is present in other popul...

    Authors: Ken C Chiu, Lee-Ming Chuang and Carol Yoon

    Citation: BMC Genetics 2001 2:7

    Content type: Research article

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  10. The association between the human cytotoxic T lymphocyte-associated antigen-4 (CTLA4) gene and insulin-dependent diabetes mellitus (IDDM) is unclear in populations. We therefore investigated whether the gene c...

    Authors: Dimitry A Chistiakov, Kirill V Savost'anov and Valery V Nosikov

    Citation: BMC Genetics 2001 2:6

    Content type: Research article

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  11. Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrop...

    Authors: Kristine F O'Brien, Elizabeth C Engle and Louis M Kunkel

    Citation: BMC Genetics 2001 2:3

    Content type: Research article

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  12. Rab GTPases are regulators of intracellular membrane traffic. The Rab27 subfamily consists of Rab27a and Rab27b. Rab27a has been recently implicated in Griscelli Disease, a disease combining partial albinism w...

    Authors: José S Ramalho, Tanya Tolmachova, Alistair N Hume, Amanda McGuigan, Cheryl Y Gregory-Evans, Clare Huxley and Miguel C Seabra

    Citation: BMC Genetics 2001 2:2

    Content type: Research article

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  13. Glaucoma is a common disease but its molecular etiology is poorly understood. It involves retinal ganglion cell death and optic nerve damage that is often associated with elevated intraocular pressure. Identif...

    Authors: Michael G Anderson, Richard S Smith, Olga V Savinova, Norman L Hawes, Bo Chang, Adriana Zabaleta, Robert Wilpan, John R Heckenlively, Muriel Davisson and Simon WM John

    Citation: BMC Genetics 2001 2:1

    Content type: Research article

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  14. The family of Fragile X Mental Retardation Proteins is composed of three members: Fragile Mental Retardation 1, Fragile X Related 1 and X Related 2 proteins. These proteins are associated with mRNPs within tra...

    Authors: Marthe Dubé, Marc-Etienne Huot and Edouard W Khandjian

    Citation: BMC Genetics 2000 1:4

    Content type: Research article

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  15. The role of glucokinase (GCK) in the pathogenesis of maturity-onset diabetes of the young is well established. However, its role in the common form of type 2 diabetes is far from convincing. We investigated th...

    Authors: Ken C Chiu, Lee-Ming Chuang, Carol Yoon and Mohammad F Saad

    Citation: BMC Genetics 2000 1:2

    Content type: Research article

    Published on:

  16. Versatile transgenic manipulation of skeletal muscle requires knowledge of the expression profiles of diverse promoter/enhancer elements in the transcriptionally specialized fiber types of which muscle is comp...

    Authors: Patricia L. Hallauer and Kenneth E.M. Hastings

    Citation: BMC Genetics 2000 1:1

    Content type: Research article

    Published on:

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