A missense mutation, A156T, in the α-galactosidase A gene causes typical Fabry disease

Clinical Nephrology

Volumn 55, Issue 3, 2001, Pages 243-247

  Konoshita, T ^a   Mutoh, H ^a   Yokoi, T ^a   Koni, I ^a   Miyamori, I ^a   Mabuchi, H ^a  

^a UNIVERSITY OF FUKUI   (Japan)

Author keywords

Galactosidase A; Fabry disease; Point mutation; RT PCR analysis

Indexed keywords

ADENINE; ALANINE; ALPHA GALACTOSIDASE; COMPLEMENTARY DNA; GUANINE; RNA; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; ANHIDROSIS; ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ASSAY; FABRY DISEASE; FIBROBLAST CULTURE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HEART LEFT VENTRICLE HYPERTROPHY; HETEROZYGOTE; HUMAN; KIDNEY DISEASE; KIDNEY FAILURE; MALE; MEDICAL LITERATURE; MISSENSE MUTATION; MOLECULAR BIOLOGY; NUCLEIC ACID BASE SUBSTITUTION; PARESTHESIA; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEINURIA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TECHNIQUE;

ALPHA-GALACTOSIDASE; FABRY DISEASE; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA;

EID: 0035108021     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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