Version 2.80

Part Description

LP435229-2   HPS3 gene targeted mutation analysis
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015] Source: 3M Health Information Systems ,

Fully-Specified Name

Component
HPS3 gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
HPS3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
HPS3 gene Mut Anl Bld/T
Display Name
HPS3 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
HPS3 gene targeted mutation analysis

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.75
Last Updated
Version 2.75 (ADD)
Order vs. Observation
Both

Formula (Readable)

N/A

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο HPS3 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Εύρεση
fr-FR French (France) HPS3 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) Gene HPS3 analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HPS3-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted
zh-CN Chinese (China) HPS3 基因 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 溶酶体细胞器 HPS3 生物发生复合物 2 亚基 1 编码基因 ;HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 protein coding gene;Hermansky-Pudlak 综合征 3 型特征类型蛋白编码基因;Hermansky-Pudlak syndrome 3 Feature Type protein coding gene 血;血液 遗传基因;遗传因子;吉恩;生物基因

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