作者：Birgit Mentrup^a ; ^{b-mentrup.klh@uni-wuerzburg.de} ; Hermann Girschick^b ; Franz Jakob^a ; Christine Hofmann^c

关键词：Hypophosphatasia ; Alkaline phosphatase ; Intron deletion ; Splicing ; Branch-point ; Transcript variant

刊名：Bone

出版年：2017

作者：André ; B.P. van Kuilenburg^a ; ^{a.b.vankuilenburg@amc.uva.nl} ; Judith Meijer^a ; Dirk Maurer^b ; Doreen Dobritzsch^b ; Rutger Meinsma^a ; Maartje Los^c ; Lia C. Knegt^a ; Lida Zoetekouw^a ; Rob L.H. Jansen^d ; Vincent Dezentjé ; ^e ; Lieke H. van Huis-Tanja^f ; Roel J.W. van Kampen^g ; Jens Michael Hertz^h ; Raoul C.M. Hennekam^a

关键词：Dihydropyrimidine dehydrogenase ; DPYD ; 5-Fluorouracil ; Capecitabine ; Pharmacogenetics ; Toxicity

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2017

作者：Hsien-Han Lin^a ; Ruey-Meei Wu^b ; Han-I. Lin^b ; Meng-Ling Chen^b ; Chun-Hwei Tai^b ; Chin-Hsien Lin^b ; ^{chlin@ntu.edu.tw}

关键词：Parkinson's disease ; RAB38B ; Ras-related protein ; Taiwanese ; Chinese

刊名：Neurobiology of Aging

出版年：2017

作者：Yang-yang PAN^a ; ^* ; ^{yypan@genetics.ac.cn" class="auth_mail" title="E-mail the corresponding author} ; Rui CHEN^b ; ^* ; ^{chenrui.taas@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Li ZHU^a ; Hai WANG^a ; Da-fang HUANG^a ; Zhi-hong LANG^a ; ^{langzhihong@caas.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：maize ; intron-mediated enhancement ; ubi1 intron ; intron modification ; IME signals

刊名：Journal of Integrative Agriculture

出版年：2016

作者：Xiaoqian Wu^a ; ¹ ; Yi Zhang^b ; ¹ ; Linyuan Shen^a ; ¹ ; Jingjing Du^a ; Jia Luo^a ; Chendong Liu^a ; Qiang Pu^a ; Runlin Yang^c ; Xuewei Li^a ; Lin Bai^a ; Guoqing Tang^a ; Shunhua Zhang^a ; ^{zhangsh1919@163.com" class="auth_mail" title="E-mail the corresponding author} ; Li Zhu^a ; ^{zhuli7508@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：TYRP1 ; Tyrosinase-related protein 1 ; MC1R ; Melanocortin receptor 1 ; ASIP ; Agouti signaling protein ; Slc7a11 ; family 7 member 11 gene ; KITLG ; KIT ligand ; MLPH ; melanophilin ; TYR ; tyrosinase ; DCT ; dopachrome topoisomerase ; SNP ; single nucleotide polymorphism ; DNA ; deoxyribonucleic acid ; Leu ; leucine ; Ala ; alanine ; Arg ; arginine ; Pro ; proline ; Met ; methionine ; Ser ; serine ; Val ; valine ; Arg ; arginine ; Asn ; asparagine ; Asp ; aspartic acid ; Ile ; isoleucine ; Thr ; threonine ; Lys ; lysine ; del ; deletion al

刊名：Gene

出版年：2016

作者：Qianlan Ding^a ; Xi Wu^a ; Yeling Lu^a ; Changming Chen^b ; Rui Shen^c ; Xi Zhang^c ; Zhengwen Jiang^c ; ^{zhengwenj@geneskies.com" class="auth_mail" title="E-mail the corresponding author} ; Xuefeng Wang^a ; ^{wangxuefeng6336@hotmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：HA ; haemophilia A ; F8 ; factor VIII gene ; Inv22 ; intron 22 inversion ; LD-PCR ; long-distance-PCR ; IS-PCR ; inverse shifting-PCR ; Del22 ; int22h-mediated deletion ; Dup22 ; int22h-mediated duplication ; PLP ; pre-amplification of LD-PCR ; AQ-PLP ; AccuCopy quantification combined with pre-amplification of long-distance PCR ; CNV ; copy number variation ; LOD ; limit of detection

刊名：Clinica Chimica Acta

出版年：2016

作者：Amaia Nogales ; Tâ ; nia Nobre ; Helia G. Cardoso ; Luz Muñ ; oz-Sanhueza¹ ; Vera Valadas ; Maria Doroteia Campos ; Birgit Arnholdt-Schmitt ; ^{eu_chair@uevora.pt" class="auth_mail" title="E-mail the corresponding author}

关键词：AOX ; alternative oxidase ; SNP ; single nucleotide polymorphism ; nsSNP ; non-synonymous single nucleotide polymorphism ; InDel ; insertion-deletion ; SSR ; simple sequence repeats ; FM ; functional marker ; mTP ; mitochondrial targeting protein ; CWR ; crop wild relatives

刊名：Plant Gene

出版年：2016

作者：Claudio Rabacchi ; PhD^a ; Federico Bigazzi ; PhD^b ; Mariarita Puntoni ; PhD^b ; Francesco Sbrana ; MD^b ; Tiziana Sampietro ; MD^b ; Patrizia Tarugi ; PhD^a ; Stefano Bertolini ; MD^c ; ^{stefbert@unige.it" class="auth_mail" title="E-mail the corresponding author} ; Sebastiano Calandra ; MD^d ; ^{sebcal@unimore.it" class="auth_mail" title="E-mail the corresponding author}

关键词：Homozygous familial hypercholesterolemia ; LDL cholesterol ; LDLR gene ; APOB gene ; Missense mutations ; In-frame deletion

刊名：Journal of Clinical Lipidology

出版年：2016

作者：Leonela N. Luce^a ; ¹ ; ^{leonelaluce@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Viviana Dalamon^b ; Marcela Ferrer^c ; Diana Parma^a ; ¹ ; Irene Szijan^a ; ¹ ; Florencia Giliberto^a ; ¹

关键词：BMD ; Becker Muscular Dystrophy ; CVS ; Chorionic Villus Sample ; DMD ; Duchenne Muscular Dystrophy ; MLPA ; Multiplex Ligation-dependent Probe Amplification ; PCR ; Polymerase Chain Reaction ; STR ; Short Tandem-Repeat ; XLDC ; X-linked Dilated Cardiomiopathy

刊名：Journal of the Neurological Sciences

出版年：2016

作者：Ruifang Wang¹ ; Yongguo Yu¹ ; Jun Ye ; Lianshu Han ; Wenjuan Qiu ; Huiwen Zhang ; Lili Liang ; Zhuwen Gong ; Lili Wang ; Xuefan Gu ; ^{gu_xuefan@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：CAH ; congenital adrenal hyperplasia ; 21-OHD ; 21-hydroxylase deficiency ; CYP21A2 ; cytochrome P450 ; family 21 ; subfamily A ; polypeptide 2 ; MLPA ; multiplex ligation-dependent probe amplification ; SW ; salt-wasting ; SV ; simple virilizing ; NC ; nonclassical ; CYP21A1P ; cytochrome P450 ; family 21 ; subfamily A ; polypeptide 1 pseudogene ; HGMD ; Human Gene Mutation database ; 17-OHP ; 17-hydroxyprogesterone ; I2G ; the intron 2 splice site mutation ; ppv ; positive predictive value ; Del ; large gene deletions ; ACTH

刊名：Steroids

出版年：2016