A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

@article{Volodarsky2013ADM,
  title={A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta},
  author={Michael Volodarsky and Barak Markus and Idan Cohen and Orna Staretz-Chacham and Hagit Flusser and Daniella Landau and Ilan Shelef and Yshaia Langer and Ohad S. Birk},
  journal={Human Mutation},
  year={2013},
  volume={34}
}
Autosomal recessive osteogenesis imperfecta (OI) was diagnosed in three unrelated Israeli Bedouin consanguineous families. [...] Key Result Genome-wide linkage analysis ruled out association with any of the known OI genes, and identified a single homozygosity locus of approximately 2 Mb on chromosome 9 common to all affected individuals (maximum multipoint lod score 6.5).Expand
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.
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