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21 ta ish

Ish: Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series

  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

    Sue Richards, Nazneen Aziz, Sherri J. Bale +9

    Maqola20159 iqtibos
    ABI

  2. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

    Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan +11

    MaqolaOchiq kirish20122 iqtibos
    ABI

  3. Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis

    Annemarie J. van der Slot, Anne‐Marie Zuurmond, A. Bardoel +12

    MaqolaOchiq kirish20032 iqtibos
    ABI

  4. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

    U. Schwarze, Tim Cundy, Shawna M. Pyott +35

    MaqolaOchiq kirish20122 iqtibos
    ABI

  5. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17

    Ruud A. Bank, Simon P. Robins, Cisca Wijmenga +5

    MaqolaOchiq kirish19992 iqtibos
    ABI

  6. Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update

    Peter D. Stenson, Edward V. Ball, Matthew Mort +6

    Maqola20032 iqtibos
    ABI

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