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Items: 7

1.

Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.

Tuchman M, Plante RJ, Garcia-Perez MA, Rubio V.

Hum Genet. 1996 Mar;97(3):274-6.

PMID:
8786061
2.

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Tuchman M.

Hum Mutat. 1993;2(3):174-8. Review.

PMID:
8364586
3.
4.

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.

Hum Mutat. 2002 Feb;19(2):93-107. Review.

PMID:
11793468
5.

The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.

Matsuda I, Tanase S.

Am J Med Genet. 1997 Sep 5;71(4):378-83. Review.

PMID:
9286441
6.

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H.

J Genet Genomics. 2015 May 20;42(5):181-94. doi: 10.1016/j.jgg.2015.04.003. Epub 2015 May 19. Review.

7.

[Hyperammonaemia type II as one of the congenital urea cycle defects].

Ciara E.

Med Wieku Rozwoj. 1999 Jan-Mar;3(1):83-95. Review. Polish.

PMID:
10910641

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