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Search results for keyword '15523624':
- annotated PLOD mutations (1)
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- LH2a ARG598HIS (LH2a) - ARG619HIS (LH2b) (PLOD2 c.1793G>A) - ClinVar - View
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- registered publications (1)
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- Ha-Vinh, R., Y. Alanay, R. A. Bank, A. B. Campos-Xavier, A. Zankl, A. Superti-Furga and L. Bonafe (2004). "Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2." Am J Med Genet A 131(2): 115-120 - DOI - PubMed - Mutations
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The table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED
with records containing the keyword "15523624".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD2-229 Lysyl Hydroxylase 2a/2b (human) LH2a ARG598HIS (LH2a) - ARG619HIS (LH2b)
(PLOD2 c.1793G>A)		 Bruck Syndrome (Type II)
Pathogenic		 7643 Ha-Vinh et al., 2004Hyry et al., 2009
Puig-Hervas et al., 2012
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