Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease

Clinical Genetics

Volumn 63, Issue 3, 2003, Pages 205-209

  Yang, C C ^a   Lai, L W ^b   Whitehair, O ^b   Hwu, W L ^a   Chiang, S C ^a   Lien, Yeong Hau H ^b  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b UNIVERSITY OF ARIZONA   (United States)

Author keywords

galactosidase A; Carrier; Fabry disease; Molecular diagnosis; Mutation; Phenotype

Indexed keywords

ADENINE; ALANINE; ALPHA GALACTOSIDASE; AMINO ACID; CARBAMAZEPINE; CORTICOSTEROID; CYTOSINE; GUANINE; LYSOSOME ENZYME; THREONINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DETERIORATION; EARLY DIAGNOSIS; ENZYME DEFICIENCY; EXON; FABRY DISEASE; FAMILY; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEART VENTRICLE HYPERTROPHY; HETEROZYGOTE DETECTION; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; NEUROPATHIC PAIN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL ACUITY; VISUAL IMPAIRMENT; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; ALPHA-GALACTOSIDASE; CHILD; CHINA; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FABRY DISEASE; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 0042131867     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00050.x     Document Type: Article

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