Abstract:
:We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset.
journal_name
Haematologicajournal_title
Haematologicaauthors
Bento MC,Chang KT,Guan Y,Liu E,Caldas G,Gatti RA,Prchal JTkeywords:
subject
Has Abstractpub_date
2005-01-01 00:00:00pages
128-9issue
1eissn
0390-6078issn
1592-8721journal_volume
90pub_type
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