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Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351.
Hum Hered. 1996.
PMID: 8807319
H714Q mutation in Wilson disease is associated with late, neurological presentation.
Houwen RH, Juyn J, Hoogenraad TU, Ploos van Amstel JK, Berger R.
Houwen RH, et al.
J Med Genet. 1995 Jun;32(6):480-2. doi: 10.1136/jmg.32.6.480.
J Med Genet. 1995.
PMID: 7666402
Free PMC article.
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Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2.
Bijlsma EK, Delattre O, Juyn JA, Melot T, Westerveld A, Dumanski JP, Thomas G, Hulsebos TJ.
Bijlsma EK, et al. Among authors: juyn ja.
Genes Chromosomes Cancer. 1993 Oct;8(2):112-8. doi: 10.1002/gcc.2870080208.
Genes Chromosomes Cancer. 1993.
PMID: 7504514
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Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.
Houwen RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB.
Houwen RH, et al.
Nat Genet. 1994 Dec;8(4):380-6. doi: 10.1038/ng1294-380.
Nat Genet. 1994.
PMID: 7894490
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Very high frequency of the His1069Gln mutation in Polish Wilson disease patients.
Czlonkowska A, Rodo M, Gajda J, Ploos van Amstel HK, Juyn J, Houwen RH.
Czlonkowska A, et al.
J Neurol. 1997 Sep;244(9):591-2. doi: 10.1007/s004150050149.
J Neurol. 1997.
PMID: 9352458
No abstract available.
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