IRIS

[No abstract available]

Blasi, P., Palmerio, F., Caldarola, S., Rizzo, C., Carrozzo, R., Gibson, K.m., et al. (2006). Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]. CLINICAL GENETICS, 69(3), 294-296 [10.1111/j.1399-0004.2006.00579.x].

Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]

BLASI, PAOLA;CALDAROLA, SARA;NOVELLETTO, ANDREA;MALASPINA, PATRIZIA
2006-01-01

Abstract

[No abstract available]
2006
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/18 - GENETICA
English
Con Impact Factor ISI
succinate semialdehyde dehydrogenase; brain cortex atrophy; case report; chemical analysis; clinical feature; consanguinity; disease severity; electroencephalogram; electroencephalography; enzyme deficiency; family history; female; gene location; gene mutation; genotype; human; infant; letter; molecular genetics; muscle hypotonia; phenotype; priority journal; psychomotor disorder; reverse transcription polymerase chain reaction; speech disorder; strabismus; Base Sequence; DNA; Female; Genotype; Humans; Infant; Mental Retardation; Mutation; Phenotype; Succinate-Semialdehyde Dehydrogenase
Blasi, P., Palmerio, F., Caldarola, S., Rizzo, C., Carrozzo, R., Gibson, K.m., et al. (2006). Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]. CLINICAL GENETICS, 69(3), 294-296 [10.1111/j.1399-0004.2006.00579.x].
Blasi, P; Palmerio, F; Caldarola, S; Rizzo, C; Carrozzo, R; Gibson, Km; Novelletto, A; Deodato, F; Cappa, M; Dionisi_vici, C; Malaspina, P
Articolo su rivista
01 - Articolo su rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/37937
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