Associated Papers
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
CRTAP variants in early-onset osteoporosis and recurrent fractures.
Costantini A et al.
American Journal of Medical Genetics. Part A, 2017
Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice.
Árvai K et al.
Scientific Reports, 2016
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.
Dan S et al.
Plos One, 2016
27433940 (PubMed )
Supplement: pone.0159355.s013.xlsx › foetal_gDNA
Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
Barbirato C et al.
Genetics and Molecular Research : Gmr, 2015
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