• Mutation; HGNC; 4006; FUCA1; Simple; p.Gln286Arg (c.857A>G) (Q281R); ClinVar=VCV000000691; Zygosity=Heterozygous (PubMed=8399358).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=3265056; DOI=10.1007/BF02401794
DiCioccio R.A., Brown K.S.
Biosynthesis, processing, and extracellular release of alpha-L-fucosidase in lymphoid cell lines of different genetic origins.
Biochem. Genet. 26:401-420(1988)

PubMed=2803224; DOI=10.1007/BF00554163
DiCioccio R.A., Darby J.K., Willems P.J.
Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.
Biochem. Genet. 27:279-290(1989)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8399358; DOI=10.1016/0925-4439(93)90065-9
Yang M.-H., Allen H., DiCioccio R.A.
Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.
Biochim. Biophys. Acta 1182:245-249(1993)