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A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
Hum Mutat. 1996;8(4):373-4. doi: 10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#.
Hum Mutat. 1996.
PMID: 8956045
No abstract available.
De novo deletions in spinal muscular atrophy: implications for genetic counselling.
Raclin V, Veber PS, Bürglen L, Munnich A, Melki J.
Raclin V, et al. Among authors: veber ps.
J Med Genet. 1997 Jan;34(1):86-7. doi: 10.1136/jmg.34.1.86.
J Med Genet. 1997.
PMID: 9032657
Free PMC article.
No abstract available.
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