أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]
المؤلفون: Blasi, P, Palmerio, F, Caldarola, S, Rizzo, C, Carrozzo, R, Gibson, Km, Novelletto, A, Deodato, F, Cappa, M, Dionisi_vici, C, Malaspina, P
بيانات النشر: Wiley-Blackwell, 2006.
سنة النشر: 2006
مصطلحات موضوعية: Genotype, phenotype, letter, speech disorder, reverse transcription polymerase chain reaction, consanguinity, Mental Retardation, case report, Humans, succinate semialdehyde dehydrogenase, gene mutation, human, gene location, family history, muscle hypotonia, Base Sequence, brain cortex atrophy, chemical analysis, clinical feature, disease severity, electroencephalogram, electroencephalography, enzyme deficiency, female, genotype, infant, molecular genetics, priority journal, psychomotor disorder, strabismus, DNA, Female, Infant, Mutation, Phenotype, Succinate-Semialdehyde Dehydrogenase, Settore BIO/18 - Genetica
اللغة: English
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3667::326ebdb1c436e0fb34ef7fbf9e08ce5fTest
http://hdl.handle.net/2108/37937Test
حقوق: CLOSED
رقم الانضمام: edsair.od......3667..326ebdb1c436e0fb34ef7fbf9e08ce5f
قاعدة البيانات: OpenAIRE
الوصف
الوصف غير متاح.