Ushbu ishga iqtibos qilgan ishlar

2 ta ish

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

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome
Charlotte Gistelinck, P. Eckhard Witten, Ann Huysseune +12
MaqolaConnective tissue disorders researchJournal of Bone and Mineral Research20160 iqtibos
ABI
Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series
Elena S. Merkuryeva, Е. А. Melnik, Vladimir M. Kenis +8
MaqolaConnective tissue disorders researchGenes20260 iqtibos
ABI

Ushbu ishga iqtibos qilgan ishlar

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

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