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Items: 12

1.
2.

Genetic and biochemical background of chronic granulomatous disease.

Jurkowska M, Bernatowska E, Bal J.

Arch Immunol Ther Exp (Warsz). 2004 Mar-Apr;52(2):113-20. Review.

PMID:
15179325
3.

Chronic granulomatous disease.

Heyworth PG, Cross AR, Curnutte JT.

Curr Opin Immunol. 2003 Oct;15(5):578-84. Review.

PMID:
14499268
4.

Chronic granulomatous disease: the solving of a clinical riddle at the molecular level.

Curnutte JT.

Clin Immunol Immunopathol. 1993 Jun;67(3 Pt 2):S2-15. Review.

PMID:
8500277
5.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
6.

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ.

Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Review.

7.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
8.

A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.

Cormand B, Díaz A, Grinberg D, Chabás A, Vilageliu L.

Blood Cells Mol Dis. 2000 Oct;26(5):409-16. Review.

PMID:
11112377
9.

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).

Cross AR, Noack D, Rae J, Curnutte JT, Heyworth PG.

Blood Cells Mol Dis. 2000 Oct;26(5):561-5. Review. No abstract available.

PMID:
11112388
10.
11.

The dermatosis of chronic granulomatous disease.

Chowdhury MM, Anstey A, Matthews CN.

Clin Exp Dermatol. 2000 May;25(3):190-4. Review.

PMID:
10844491
12.

Retrotransposable genetic elements causing neutrophil defects.

Roos D, de Boer M.

Eur J Clin Invest. 2018 May 17:e12953. doi: 10.1111/eci.12953. [Epub ahead of print] Review.

PMID:
29774526

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