Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria

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Fältnamn	Indikatorer	Metadata
000		01224naa a2200265 4500
001		oai:prod.swepub.kib.ki.se:1950582
003		SwePub
008		240701s2002 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:19505822 URI
024	7	a https://doi.org/10.1007/s1003802000592 DOI
040		a (SwePub)ki
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Wiman, A4 aut
245	1 0	a Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria
264	1	b Springer Science and Business Media LLC,c 2002
700	1	a Floderus, Yu Karolinska Institutet4 aut
700	1	a Harper, Pu Karolinska Institutet4 aut
710	2	a Karolinska Institutet4 org
773	0	t Journal of human geneticsd : Springer Science and Business Media LLCg 47:8, s. 407-412q 47:8<407-412x 1434-5161x 1435-232X
856	4	u https://www.nature.com/articles/jhg200266.pdf
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:1950582
856	4 8	u https://doi.org/10.1007/s100380200059

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