INFANTILE SPINAL PROGRESSIVE MUSCULAR ATROPHY (WERDNIG-HOFFMANN)
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of spinal muscular atrophy type I (Werdnig- hoffmann) by DNA deletion analysis of cultivated amniocytes.
AIM Presentation of a prenatally diagnosed case of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy. METHODS DNA obtained from cultivated amniocytes was analyzed for deletions in the survival motor neuron gene and neuronal apoptosis inhibitory protein gene. RESULTS The fetus was diagnosed as an affected homozygote for deletions in exon 7 and exon 8 of the survival m...
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ژورنال
عنوان ژورنال: American Journal of Diseases of Children
سال: 1920
ISSN: 0096-8994
DOI: 10.1001/archpedi.1920.01910300036003