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Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)

机译：归因于编码Matrilin-3（T120M）的纯合子错义突变导致的脊椎-上e骨-骨s发育不良

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摘要

Spondylo-epi-metaphyseal dysplasia (SEMD) represents a group of osteo-chondrodysplasias characterized by vertebral, epiphyseal as well as metaphyseal abnormalities. Several genes have been identified underlying the different forms.

机译：脊椎-上-phy骨发育不良（SEMD）代表一组以软骨，pla骨和干meta端异常为特征的骨软骨发育不良。已经鉴定出几种不同形式的基因。

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期刊名称 Bone Reports
作者
Liza Das; Vandana Dhiman; Wim Van Hul; Anil Bhansali; Yashpal Gogate; Ellen Steenackers; Geert Mortier; Sanjay Kumar Bhadada;
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作者单位

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年(卷),期 2020(12),-1
年度 2020
页码 -1
总页数 5
原文格式 PDF
正文语种
中图分类外科学;
关键词
Spondylo-epi-metaphyseal dysplasia (SEMD); Matrilin-3 (;

机译：脊椎-上-骨发育不良（SEMD）;基质胶3（;

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专利

1. Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M) [J] . Liza Das, Vandana Dhiman, Wim Van Hul, Bone Reports . 2020,第12期

机译：由于编码基因-3（T120M）的基因中纯合的畸形突变，脊椎 - 外部复杂性发育不良
2. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. [J] . Chapman KL, Mortier GR, Chapman K, Nature Genetics . 2001,第4期

机译：matrilin-3的von Willebrand因子A结构域编码区域的突变与多个骨multiple发育异常有关。
3. A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROCin a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases [J] . Evren Gumus Journal of pediatric genetics . 2019,第3期

机译：DHCR7中的一种新型帧生纯合突变，在Procin中具有已知的寄生纯合突变，是一个6岁的男孩：一个有两种稀有遗传疾病的孩子
4. Functional consequences of missense mutation in the GJB2 gene associated with non-synclromic hearing loss [C] . Lee Kyu Yup, Choi Soo-Young, Lin Xi, Asia Pacific Symposium on Cochlear Implant and Related SciencesAsia Pacific Symposium on Cochlear Implant and Related Sciences . 2009

机译：与非辛瘤性听力损失相关的GJB2基因畸形突变的功能后果
5. Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C [D] . Yamamoto Koji, Matsushita Tadashi, Sugiura Isamu, 1992

机译：纯合蛋白C缺乏症：鉴定导致突变蛋白C分泌受损的新型错义突变
6. Missense mutations in the ß strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia [O] . G Jackson, F Barker, E Jakkula, 2004

机译：matrilin-3单个A结构域的ß链中的错义突变导致多发性骨epi发育异常
7. Missense mutations in the ß strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia [O] . Jackson, G, Barker, F, Jakkula, E, 2004

机译：matrilin-3单个A结构域的ß链中的错义突变导致多发性骨epi发育异常

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)

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