Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): Report from India

European Journal of Medical Genetics

Volumn 51, Issue 5, 2008, Pages 426-435

  Nalini, A ^a   Gayathri, N ^a   Yasha, T C ^a   Ravishankar, S ^a   Urtizberea, A ^b   Huehne, Kathrin ^c   Rautenstrauss, Bernd ^c  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

^b Institute of Human Genetics ^*

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

AluYa5; GAN; Giant axon neuropathy

Indexed keywords

GENOMIC DNA;

ALU SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CLINICAL FEATURE; DNA FLANKING REGION; DNA PURIFICATION; EXON; FACTUAL DATABASE; GENE DELETION; GENE INSERTION; GENETIC CODE; GIANT AXONAL NEUROPATHY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INDIA; MALE; MEDICAL INSTRUMENTATION; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; POLYMERASE CHAIN REACTION; SIBLING;

EID: 50849129141     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.05.006     Document Type: Article

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