SPG35 contributes to the second common subtype of AR-HSP in china: Frequency analysis and functional characterization of FA2H gene mutations

Clinical Genetics

Volumn 87, Issue 1, 2015, Pages 85-89

  Liao, X ^a   Luo, Y ^a   Zhan, Z ^a   Du, J ^a,b   Hu, Z ^a,b   Wang, J ^a,b   Guo, J ^a,b   Yan, X ^a,b   Pan, Q ^b   Xia, K ^b   Tang, B ^a,b   Shen, L ^a,b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

FA2H; Fatty acid hydroxylase associated neurodegeneration (FAHN); Hereditary spastic paraplegia; SPG35

Indexed keywords

ADULT; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHINESE; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; FA2H GENE; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPASTIC PARAPLEGIA TYPE 35; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NONHUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SPG11 GENE; SPG15 GENE; SPG5 GENE; SPG7 GENE; ADOLESCENT; BRAIN; CASE REPORT; CHINA; CLASSIFICATION; DNA SEQUENCE; ENZYMOLOGY; FATALITY; GENETICS; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RNA SPLICING;

FATTY ACID ALPHA-HYDROXYLASE; MIXED FUNCTION OXIDASE; RNA SPLICING;

ADOLESCENT; ADULT; BASE SEQUENCE; BRAIN; CHINA; FATAL OUTCOME; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIXED FUNCTION OXYGENASES; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84919439015     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12336     Document Type: Article

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