41119-9LOINC 2.82
APTX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
APTX gene Mut Anl Bld/T
Component
- APTX gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- AOA; AOA1; aprataxin; Aprataxin gene; Ataxia 1, early onset with hypoalbuminemia; AXA1; Blood; EAOH; EOAHA; FHA-HIT; FLJ20157; Genetics; Heredity; Heritable; HGNC:902; Identity or presence; Inherited; MGC1072; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- AOA
- AOA1
- aprataxin
- Aprataxin gene
- APTX gene targeted mutation analysis
- Ataxia 1, early onset with hypoalbuminemia
- AXA1
- Blood
- EAOH
- EOAHA
- FHA-HIT
- FLJ20157
- Genetics
- Heredity
- Heritable
- HGNC:902
- Identity or presence
- Inherited
- MGC1072
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- Nominal
- PCR
- Point in time
- Random
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue