https://scholars.lib.ntu.edu.tw/handle/123456789/526055
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | Yang C.-C. | en_US |
dc.contributor.author | Lai L.-W. | en_US |
dc.contributor.author | Whitehair O. | en_US |
dc.contributor.author | WUH-LIANG HWU | en_US |
dc.contributor.author | Chiang S.-C. | en_US |
dc.contributor.author | Lien Y.-H.H. | en_US |
dc.creator | Yang C.-C.;Lai L.-W.;Whitehair O.;Wuh-Liang Hwu;Chiang S.-C.;Lien Y.-H.H. | - |
dc.date.accessioned | 2020-12-16T02:26:17Z | - |
dc.date.available | 2020-12-16T02:26:17Z | - |
dc.date.issued | 2003 | - |
dc.identifier.issn | 0009-9163 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0042131867&doi=10.1034%2fj.1399-0004.2003.00050.x&partnerID=40&md5=1af134957094443ab4ad55a50e37a314 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/526055 | - |
dc.description.abstract | Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal α-galactosidase A [EC 3.2.1.22]. The molecular diagnosis of Fabry disease is important for genotype/phenotype correlation, prenatal or early diagnosis, and detection of carrier status. Although more than 200 genotypes of the α-galactosidase A gene have been identified, mutation data on the Chinese population is sparse. We recently identified two unrelated Chinese families with Fabry disease. Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the α-galactosidase A gene. Two novel mutations were identified: in family I, a C-to-A transversion resulted in an early termination at amino acid 222 (Y222X), while in family II, an A-to-G transition resulted in a substitution of alanine for threonine at amino acid 410 (T410A). Carrier status was identified in all four females in the two families. The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain. | - |
dc.relation.ispartof | Clinical Genetics | - |
dc.subject | α-galactosidase A; Carrier; Fabry disease; Molecular diagnosis; Mutation; Phenotype | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | 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 | - |
dc.title | Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1034/j.1399-0004.2003.00050.x | - |
dc.identifier.pmid | 12694230 | - |
dc.identifier.scopus | 2-s2.0-0042131867 | - |
dc.relation.pages | 205-209 | - |
dc.relation.journalvolume | 63 | - |
dc.relation.journalissue | 3 | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.orcid | 0000-0001-6690-4879 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 醫學系 |
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