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Results: 8

1.

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V.

Hum Mutat. 2007 Mar;28(3):255-64.

PMID:
17072863
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Skovby F, Gaustadnes M, Mudd SH.

Mol Genet Metab. 2010 Jan;99(1):1-3. doi: 10.1016/j.ymgme.2009.09.009. Epub . Review.

PMID:
19819175
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

Kraus JP.

J Inherit Metab Dis. 1994;17(4):383-90. Review.

PMID:
7967489
[PubMed - indexed for MEDLINE]
4.

Cystathionine beta-synthase mutations in homocystinuria.

Kraus JP, JanosĂ­k M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M.

Hum Mutat. 1999;13(5):362-75. Review.

PMID:
10338090
[PubMed - indexed for MEDLINE]
5.

Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.

De Franchis R, Sperandeo MP, Sebastio G, Andria G.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S67-70. Review.

PMID:
9587029
[PubMed - indexed for MEDLINE]
6.

The role of cystathionine beta-synthase in homocysteine metabolism.

Jhee KH, Kruger WD.

Antioxid Redox Signal. 2005 May-Jun;7(5-6):813-22. Review.

PMID:
15890029
[PubMed - indexed for MEDLINE]
7.

Structural insights into mutations of cystathionine beta-synthase.

Meier M, Oliveriusova J, Kraus JP, Burkhard P.

Biochim Biophys Acta. 2003 Apr 11;1647(1-2):206-13. Review.

PMID:
12686134
[PubMed - indexed for MEDLINE]
8.

Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations.

Miles EW, Kraus JP.

J Biol Chem. 2004 Jul 16;279(29):29871-4. Epub 2004 Apr 15. Review. No abstract available.

PMID:
15087459
[PubMed - indexed for MEDLINE]
Free Article

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