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Whole exome sequencing identifies a novel missense FBN2 mut..:
Guo, Xingping
;
Song, Chunying
;
Shi, Yaping
...
qt9pn0b092. , 2016
Link:
https://escholarship.org/uc/item/9pn0b092
RT Journal T1
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt9pn0b092&Exemplar=1&LAN=DE A1 Guo, Xingping A1 Song, Chunying A1 Shi, Yaping A1 Li, Hongxia A1 Meng, Weijing A1 Yuan, Qinzhao A1 Xue, Jinjie A1 Xie, Jun A1 Liang, Yunxia A1 Yuan, Yanan A1 Yu, Baofeng A1 Wang, Huaixiu A1 Chen, Yun A1 Qi, Lixin A1 Li, Xinmin PB eScholarship, University of California YR 2016 K1 Biological Sciences K1 Bioinformatics and Computational Biology K1 Genetics K1 Rare Diseases K1 Clinical Research K1 Biotechnology K1 2.1 Biological and endogenous factors K1 Aetiology K1 Alleles K1 Amino Acid Sequence K1 Animals K1 Arachnodactyly K1 Asian People K1 Base Sequence K1 China K1 Contracture K1 DNA K1 DNA Mutational Analysis K1 Fibrillin-2 K1 Genotype K1 Humans K1 Male K1 Molecular Sequence Data K1 Mutation K1 Missense K1 Pedigree K1 Sequence Alignment K1 Whole exome sequencing K1 FBN2 K1 Congenital contractural arachnodactyly K1 Clinical Sciences K1 Genetics & Heredity JF qt9pn0b092 LK http://dx.doi.org/https://escholarship.org/uc/item/9pn0b092 DO https://escholarship.org/uc/item/9pn0b092 SF ELIB - SuUB Bremen
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