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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

机译：I型胶原的螺旋突变影响氨基肽的加工，导致成骨不全症/ Ehlers-Danlos综合征重叠综合征

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1. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [J] . Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Orphanet journal of rare diseases . 2013,第2期

机译：I型胶原的螺旋突变影响氨基肽的加工，导致成骨不全症/ Ehlers-Danlos综合征重叠综合征
2. A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly [J] . Thunyaporn Budsamongkol, Narin Intarak, Thanakorn Theerapanon, Genes and Diseases . 2019,第2期

机译：COL1A2的新型突变导致成骨不全/ Ehlers-Danlos重叠综合征伴近视
3. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing [J] . Mackenroth Luisa, Fischer-Zirnsak Bjoern, Egerer Johannes, American journal of medical genetics, Part A . 2016,第4期

机译：通过全外显子组测序确定的COL1A1杂合突变和TNXB中的双等位基因错义变体导致成骨不全症和Ehlers-Danlos综合征的表型重叠
4. Alterations in collagen structure in hypermobility and Ehlers-Danlos syndromes detected by Raman spectroscopy in vivo [C] . Carina Koch Johansson, Monika Gniadecka, Susanne Ullman, Conference on Optical Biopsy and Tissue Optics 5-6 July 2000 Amsterdam, the Netherlands . 2000

机译：拉曼光谱法在体内检测到的高运动性和Ehlers-Danlos综合征的胶原蛋白结构变化
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [O] . Fransiska Malfait, Sofie Symoens, Nathalie Goemans, 2013

机译：I型胶原的螺旋突变影响氨基肽的加工导致成骨不全症/ Ehlers-Danlos综合征重叠综合征
7. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [O] . Malfait, Fransiska, Symoens, Sofie, Goemans, Nathalie, 2013

机译：I型胶原中影响氨基肽加工的螺旋突变导致成骨不全/ Ehlers-Danlos综合征重叠综合征

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

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