PMC Articles for MedGen (Select 864877) - PMC - NCBI

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Select item 12875341.

Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents

Roger V. Lebo, Lawrence R. Shapiro, Elif Yosunkaya Fenerci, J. M. Hoover, Jacinta L. Chuang, David T. Chuang, David F. Kronn

Am J Hum Genet. 2000 Sep; 67(3): 750–754. Published online 2000 Jul 27. doi: 10.1086/303042

PMCID:: PMC1287534

Article PubReader PDF–174K Cite

Select item 5082432.

E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.

J L Chuang, R P Cox, D T Chuang

J Clin Invest. 1997 Aug 1; 100(3): 736–744. doi: 10.1172/JCI119586

PMCID:: PMC508243

Summary PDF–304K Cite

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