Significant increase in the number of the SMN2 gene copies in an adult-onset type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene

European Neurology

Volumn 52, Issue 2, 2004, Pages 101-106

  Yamashita, Mariko ^a   Nishio, Hisahide ^b   Harada, Yosuke ^b   Matsuo, Masafumi ^b   Yamamoto, Toru ^a  

^a SAISEIKAI NAKATSU HOSPITAL   (Japan)

^b KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Copy number; NAIP; SMN1; SMN2; Spinal muscular atrophy

Indexed keywords

NEURONAL APOPTOSIS INHIBITORY PROTEIN; PROTEIN; SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; GENE DELETION; GENE NUMBER; HOMOZYGOSITY; HUMAN; LABORATORY TEST; MALE; MUSCLE WEAKNESS; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BLOTTING, SOUTHERN; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; EXONS; GENE DELETION; HOMOZYGOTE; HUMANS; MALE; NERVE TISSUE PROTEINS; NEURONAL APOPTOSIS-INHIBITORY PROTEIN; RNA-BINDING PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 4644275624     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000080140     Document Type: Article

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