Gene mutations are alterations in the DNA code.

基因突是指DNA 密码的改。

Mild mutations in XPF cause the cancer-prone syndrome xeroderma pigmentosum.

XPF轻微突导致致癌倾向综合征着性干皮病。

Objective To identify the COL7A1 gene mutation in a family with dy strophic epidermolysis bullosa pruriginosa.

目的鉴定一营养不良型大疱性表皮松解症家系的基因突,为进一步开展基因诊断和基因治疗奠定基础。

Technique of mutation breeding in gladiola was studied by meansof electron beam.

用电子束辐射唐菖蒲种球，研究唐菖蒲的诱育种。

We found a recessive cataract mutation arose spontaneously in a KUNMING outbred mouse strain.

研究遗传性白内障致病基因，实验动物模型是一个非常好的方式。

Abstract： Technique of mutation breeding in gladiola was studied by means of electron beam.

摘 要： 用电子束辐射唐菖蒲种球，研究唐菖蒲的诱育种。

JianYang Tangelo,a new citrus hybrid cultivar,originated from a bud mutation of a tangelo cultivar introduced from abroad.

建阳橘柚是从国外引进的橘柚种中通过芽选育成的杂柑类新种。

CodonCode Aligner is a program for sequence assembly, contig editing, and mutation detection, available for Windows and Mac OS X.

DNA测序trace图编辑、突分析、contig编辑、序列拼接软件。

Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cognition.

因为ELN突引起血管的疾病，但没有认知的异常，这些资料暗示了激酶1半合性基因在视觉空间建构认知障碍中的作用。

At least some of the mutations responsible for this loss of vision differed between the 29 populations of cavefish known to exist.

目前现存的29种洞穴鱼，其眼盲亦与这些突有关，但是其基因突的位置并不相同。

This indicats that gamma ray irradiation can increase the frequency of mutations and produces special types of flower in Godetia grandiflora breeding.

花异主要是颜，甚至为白。花瓣异可由原来的单瓣为重瓣花。

Results Of the 23 mutations, 22 were detected by heteroduplex analysis (96%), 20 by SSCP analysis (87%) and 23 by heteroduplex-SSCP analysis (100%).

结果23个杂合子突中ˇ异源双链法、SSCP法与异源双链-SSCP法检出突分别为22个(96%)、20个(87%)和23个(100%)。

The mutation potential of ethephon was by investigated the micronucleus test of bone marrow polychromatophilic erythroblasts (PCE) cells and sperm shape abnormality test in mice.

摘要为测定乙烯利对人体健康的影响，采用小鼠骨髓细胞微核试验和小鼠精子畸形试验分别检测了乙烯利对小鼠体细胞和生殖细胞的致突性。

CONCLUSION: Base pair substitution mutation and frame shift mutation were caused by folpet in Ames test.And DNA breakage in human PMNC might be induced by folpet.

灭菌丹可引起鼠伤寒沙门氏菌碱基置换和移码突，并可能损伤人外周血淋巴细胞DNA的完整性。

Allelotype analysis was done at five short tandem repeat markers (D17S855, D17S1322, D17S1323, D17S1326, and D17S1327) in or adjacent to BRCA1 on the recurrent mutation carriers.

对发现携带有相同突的个体选取5个与BRCA1基因连锁的标记（D17S855、D17S1322、D17S1323、D17S1326和D17S1327）进行单倍型分析。

Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson's disease.

最近的研究表明，在帕金森患者的脑苷脂（GBA）基因编码中突频率增加。脑苷脂的缺乏可导致高歇氏病。

A mutant, TS-N-121 was obtained by mutation and plate screening from a parent strain Mycobacterium fortuitum MF2 , which could transform sterol into androstanedione as the main product.

从雄甾二酮的转化产生菌偶发分枝杆菌MF2出发,经紫外诱结合平板筛选,获得一株主要转化生产睾酮的突株TS-N-121。

Liver function tests and hepatitis B virus (HBV) DNA (Versant 3.0) were assessed bimonthly, whereas adefovir-related mutations were searched by INNO-LiPA assay at baseline and at yearly intervals.

我们评估了阿德-拉米联合治疗能否克服这种风险。

Sandhoff results from a genetic mutation that reduces the body's supply of an enzyme, called hexosaminidase ("hex"), used by brain cells to metabolize excess fatty material called lipids.

由基因突导致的山德霍夫氏病会减少体内的一种叫做己糖胺酶的供应，而脑细胞用它来代谢过多的脂质。

In contrast to simplistic expectations, the total amount of protofibrils and the amount of permeabilizing activity per mole protein in the protofibril fraction were reduced by the E46K mutation.

与过分简单化的期望相反，E46K突减少了原纤维的总数和有孔道结构的原纤维数。