Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: Unusual genetic mutation leading to unusual manifestation?

Journal of Postgraduate Medicine

Volumn 58, Issue 4, 2012, Pages 294-295

  Maiti, D ^a   Bhattacharya, M ^a   Yadav, S ^a  

^a LOK NAYAK HOSPITAL   (India)

Author keywords

Exon 7; exon 8; optic atrophy; spinal muscular atrophy; survivor motor neuron gene

Indexed keywords

NEURONAL APOPTOSIS INHIBITORY PROTEIN;

ARTICLE; CASE REPORT; EXON; GENE; GENE DELETION; HUMAN; INFANT; MALE; OPTIC NERVE ATROPHY; SPINAL MUSCULAR ATROPHY; SPINAL MUSCULAR ATROPHY TYPE 1; SURVIVOR MOTOR NEURON GENE;

AMPLIFIED FRAGMENT LENGTH POLYMORPHISM ANALYSIS; EXONS; GENE DELETION; GENES, RECESSIVE; HUMANS; INFANT; MALE; NEURONAL APOPTOSIS-INHIBITORY PROTEIN; OPTIC ATROPHY; POLYMERASE CHAIN REACTION; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 84873481067     PISSN: 00223859     EISSN: 09722823     Source Type: Journal    
DOI: 10.4103/0022-3859.105451     Document Type: Article

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