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Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
by
Lim, Pei Jin
,
Marcionelli, Giulio
,
Srikanthan, Pakeerathan
,
Ndarugendamwo, Timothée
,
Pinner, Jason
,
Rohrbach, Marianne
,
Giunta, Cecilia
Published in
Frontiers in endocrinology (Lausanne)
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Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta
by
Lim, Pei Jin
,
Marfurt, Severin
,
Lindert, Uschi
,
Opitz, Lennart
,
Ndarugendamwo, Timothée
,
Srikanthan, Pakeerathan
,
Poms, Martin
,
Hersberger, Martin
,
Langhans, Claus-Dieter
,
Haas, Dorothea
,
Rohrbach, Marianne
,
Giunta, Cecilia
Published in
Frontiers in genetics
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Frontiers In Endocrinology
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Frontiers In Genetics
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Subjects
Life Sciences & Biomedicine
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Mbtps2
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Science & Technology
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X-Linked Osteogenesis Imperfecta
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Alopecia
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1
Collagen - Genetics
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Connective Tissue
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Endocrinology
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Endocrinology & Metabolism
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Extracellular Matrix
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Fatty Acid Metabolism
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Female
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Genetics
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Genetics & Heredity
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Humans
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Lipid Metabolism
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Male
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Metalloendopeptidases
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Osteogenesis Imperfecta
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Osteogenesis Imperfecta - Genetics
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