相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder
Fransiska Malfait et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis
Mathilde Nizon et al.
HUMAN MUTATION (2012)
Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
Lisenka E. L. M. Vissers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects
Sevjidmaa Baasanjav et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
Matthew L. Warman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome
Sophie Rahuel-Clermont et al.
BIOCHEMICAL JOURNAL (2010)
Autosomal dominant inheritance in Larsen's syndrome
R. Harris et al.
CLINICAL GENETICS (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Identification of CANT1 Mutations in Desbuquois Dysplasia
Celine Huber et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
NATURE BIOTECHNOLOGY (2009)
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
Pia Hermanns et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (β4GalT-7)
Daniela G. Seidler et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2006)
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
D Krakow et al.
NATURE GENETICS (2004)
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement
H Thiele et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type
M Faiyaz-Ul-Haque et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)