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

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
Мақола20156 иқтибос
ABI
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
Мақола20122 иқтибос
ABI
Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis
Annemarie J. van der Slot, Anne‐Marie Zuurmond, A. Bardoel +12
Мақола20032 иқтибос
ABI
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
Мақола20122 иқтибос
ABI
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
Мақола19992 иқтибос
ABI
Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update
Peter D. Stenson, Edward V. Ball, Matthew Mort +6
Мақола20032 иқтибос
ABI
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