Citations for
1FUCA1, FUCA1D
Mutation identification and characterization of a Taiwanese patient with fucosidosis.
Lin SP, Chang JH, de la Cadena MP, Chang TF, Lee-Chen GJ.
J Hum Genet 52(6):553-6. Epub 2007 Apr 11. 2007
2FUCA1
Crypticity and functional distribution of the membrane associated alpha-L-fucosidase of human sperm.
Venditti JJ, Donigan KA, Bean BS.
Mol Reprod Dev 74(6):758-66. 2007
3FUCA1
Purification and characterization of alpha-L-fucosidase from human primary hepatocarcinoma tissue.
Li C, Qian J, Lin JS.
World J Gastroenterol 12(23):3770-5. 2006
4FUCA1, FUCA2
Comparative and phylogenetic analysis of alpha-l-fucosidase genes.
Intra J, Perotti ME, Pavesi G, Horner D.
Gene [Epub ahead of print] 2006
5FUCA1, FUCA1D
Spectrum of mutations in fucosidosis.
Willems PJ, et al.
Eur J Hum Genet 7(1):60-7. 1999
6FUCA1
Fucosidosis : genetic and biochemical analysis of eight cases.
Cragg H, et al.
J Med Genet 34 : 105-110. 1997
7FUCA1, FUCA1D
A 66-basepair insertion in exon 6 of the alpha-L-fucosidase gene of a fucosidosis patient.
Seo HC, et al.
Hum Mutat 7 : 183. 1996
8FUCA1, FUCA1D
A nonsense mutation in two German patients with fucosidosis.
Seo HC, et al.
Hum Mutat 6 : 184-185. 1995
9FUCA1
A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusing.
Yang M, et al.
Hum Genet 93 : 597-599. 1994
10FUCA1, FUCA1D
A single-base deletion mutation in a Turkish patient with fucosidosis.
Seo HC, et al.
Hum Mutat 3 : 407-408. 1994
11FUCA1
Genetically polymorphic alpha-L-fucosidase (FUCA1) isozymes detected in blood plasma.
Takeshita H, et al.
Hum Genet 94 : 224-230. 1994
12FUCA1, FUCA1D
A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.
Seo HC, et al.
Hum Mol Genet 3 : 2065-2066. 1994
13FUCA1
A 5' splice site mutation in fucosidosis.
Williamson M, et al.
J Med Genet 30 : 218-223. 1993
14FUCA1, FUCA1D
Fucosidosis : four new mutations and a new polymorphism.
Seo HC, et al.
Hum Mol Genet 2 : 423-429. 1993
15FUCA1, FUCA1D
Six additional mutations in fucosidosis : three nonsense mutations and three frameshift mutations.
Seo HC, et al.
Hum Mol Genet 2 : 1205-1208. 1993
16FUCA1, FUCA1P
Structure and sequence of the human alpha-L-fucosidase gene and pseudogene.
Kretz KA, et al.
Genomics 12 : 276-280. 1992
17FUCA1, FUCA1D
A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient.
Yang M, et al.
Biochem Biophys Res Commun 189 : 1063-1068. 1992
18FUCA1, FUCA1D
Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.
Willems PJ, Darby JK, DiCioccio RA, Nakashima P, Eng C, Kretz KA, Cavalli-Sforza LL, Shooter EM, O'Brien JS.
Am J Hum Genet 43 : 756-763. 1988
19ALPL, FUCA1, D1S15, D1S16, D1S17, D1S18, D1S19, D1S20, D1S21, D1S22, D1S57, D1S9, D1S10, D1S11, D1S12, D1S13, D1S14, SLC2A1
A genetic linkage map of 27 loci from PND to FY on the short arm of human chromosome 1.
Dracopoli NC, Stanger BZ, Ito CY, Call KM, Lincoln SE, Lander ES, Housman DE.
Am J Hum Genet 43 : 462-470. 1988
20FUCA1
Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.
Darby JK, Willems PJ, Nakashima P, Johnsen J, Ferrell RE, Wijsman EM, Gerhard DS, Dracopoli NC, Housman D, Henke J, et al.
Am J Hum Genet 43 : 749-755. 1988
21FUCA1, FUCA1P
Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2.
Fowler ML, et al.
Cytogenet Cell Genet 43 :103-108. 1986
22FUCA1
PvuII RFLP at the human chromosome 1 alpha-L-fucosidase gene locus (FUCA1).
Darby JK, et al.
Nucleic Acids Res 14 : 9543. 1986
23FUCA1
Molecular cloning of a cDNA for human alpha-L-fucosidase.
Fukushima H, et al.
Proc Natl Acad Sci U S A 82 : 1262-1265. 1985
24FUCA1
Genomic cloning of the short arm of human chromosome 1.
Carritt B.
(HGM8) Cytogenet Cell Genet 40 : 599. 1985
25FUCA1
Linkage between alpha-fucosidase and the rhesus blood group.
Corney G, et al.
Ann Hum Genet 40 : 403-405. 1977
26FUCA1
Localization of the human î-L-fucosidase gene locus to chromosome 1 by use of a clone panel.
Turner VS, et al.
Cytogenet Cell Genet 16 : 238-240. 1976