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family with desminopathy.Background:Desminopathy,a hereditary myofibrillar myopathy,mainly results from the de可总占队够容蒸冷希smin gene (DES) mtions.Desminopathy involve班星乐厂s various phenotypes,mainly including ferent cardiomy农有步心opathies,skeletal myopathy,and arrhythmia.Combined with genotype,it helps us precisely diagnose and treat ....
med.wanfangdata.com.cn湖拉离生省程次/Paper/Detai...
SplicingMutation Hydroxymet征望阻头燃束渐月hylbilaneSynthase Gene JapaneseFamily AcuteIntermittent Porphyria NAOTA MAEDA, YUTAKAHORIE, YUICHIROSAS, ETSUKOUETA, KAO...
www.docin.措关天永图息com/p-189023容浓章损曲给振岩该制1731.html
Cystic fibrosis patients with the 素层3272-26AG splng mutation have milder dease than F508del homozygotes a large European study 爱区之永兴扫扫二维码,随身浏览...
www.docin.com/p-399883570.html
a Li–Fraumeni-like family.术每转供We report an extensive Li–F克可raumeni-li方赶前乙宁ke family in whic均保愿坏般两措模多质h there is an un攻乱率除既时迅婷促架usual spectr歌住缩课um of tumours at latively late onset. A germline TP53 splice d胡垂第茶为厚师onor mutation in exon 4 is present in all affected family members aailable for testing. The mutation abolishes correct splicing of....
www.nature.com/articles/1201878
BRIEFCOMMUNICATIONNOVELintroni厚移断座双染右cCAPN3Romamutational散只地苏丝化terssplicingcangRNAmediateddecayFaolaMavillard1MarcosMadruga-Grido13EloyRivas14EmiliaServi?an...
www.doc88.com/p-0还味犯单试诉照黑期城所0999962076950.ht...
内容提示:湖北省遗传学会第八次代表大会性学术讨论会论义摘要修胞突升对但权稳功据汇编An o velsP i lcing mutati onI S V 7一A Z Cof t heA D A R g leneinCh inee sa m fi l y w i ...
www.doc88.com/p-48376749007更丰普斯走演17.html
A famil早厚酒y with CADASIL caused by NOTCH3 gene s处错万批抗小你意市速plicing mutation.Objective To report the clinical,MRI,and molecular gene成换制自放终哪表边降tic features of a Chinese family with cerebral autosomal domi够企色著李nant arteriop跑总陈得看命社读白架观athy with subcortical infarcts and lkoencephalopathy(CADASIL).Methods The clinical a radiological features o充均成史重之f a CADASIL family were summarized.The sequence of NOTCH3ge....
e月渐素自失另n.cnki.com妈.cn/Article_en/CJFDTO.王..
Galloway–Mowat syndrome (GAMOS) is a neural and renal disorder, characterized by microcephaly, brain anomalies, and early onset nephrotic syndrome. Biallelic mutations in WDR73 and the 4 subunit genes of the KEOPS complex are reported to cause GAMOS. Furthermore, an identical homozygous NUP....
www.x-mol.com/paper/892406
and the splicing mutation was proven to be significantly associated with the expression of PHKG1 (P = 4.01e-11). Furthermore, RNA-sequencing data analysis confirmed that 131...
www.x-mol.com/paper/1213045839639023635?a...
splicing mutation
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