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2004, Number 3

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Med Sur 2004; 11 (3)

Diseases link to two chromosome. Part two

Contreras CNA, Mancillas ALG
Full text How to cite this article

Language: Spanish
References: 8
Page: 143-148
PDF size: 87.72 Kb.


Key words:

Chromosome 2, essential tremor, C protein deficit, Crigler-Najjar syndrome, Ehlers-Danlos syndrome, xeroderma pigmentosum.

ABSTRACT

Chromosome 2 recently has been implied in the pathogenesis of multiple diseases. We will deal with mainly in this article the essential tremor, C protein deficit, Crigler-Najjar syndrome, Ehlers-Danlos syndrome and xeroderma pigmentosum.


REFERENCES

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  2. Schauer R, Stangl M, Lang T, Zimmermann A, Chouker A, Gerbes AL, Schildberg FW, Rau HG. Treatment of Crigler-Najjar type 1 disease: relevance of early liver transplantation. J Pediatr Surg 2003; 38(8): 1227-31.

  3. Bosma PJ. Inherited disorders of bilirubin metabolism. J Hepatol 2003; 38(1): 107-17. Review.

  4. Fernández M, Sangwan VS, Vemuganti GK. Limbal stem cell deficiency and xeroderma pigmentosum: a case report. Eye 2004; 18(7): 741-3.

  5. Yang Y, Ding B, Wang K, Bu D, Tu P, Zhu X. DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. Br J Dermatol 2004; 150(6): 1190-3.

  6. Loscalzo ML, Galczynski RL, Hamosh A, Summar M, Chinsky JM, Thomas GH. Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency). Am J Med Genet 2004; 128A(3): 311-5.

  7. Kumar A, Shetty J, Kumar B, Blanton SH. Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family. Mol Vis 2004; 10: 399-402.

  8. Marneros AG, Norris JE, Watanabe S, Reichenberger E, Olsen BR. Genome scans provide evidence for keloid susceptibility loci on chromosomes 2q23 and 7p11. J Invest Dermatol 2004; 122(5):1126-32.




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C?MO CITAR (Vancouver)

Med Sur. 2004;11