Giant axonal neuropathy locus refinement to a < 590 kb critical interval

European Journal of Human Genetics

Volumn 8, Issue 7, 2000, Pages 527-534

  Cavalier, Laurent ^a   BenHamida, Christiane ^b   Amouri, Rim ^b   Belal, Samir ^b   Bomont, Pascale ^a   Lagarde, Nadège ^a   Gressin, Laëtitia ^c   Callen, David ^d   Demir, Ercan ^e   Topaloglu, Haluk ^e   Landrieu, Pierre ^f   Ioos, Catherine ^g   Hamida, Mongi Ben ^b   Kœnig, Michel ^a   Hentati, Fayçal ^b  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b Institut National de Neurologie Tunisia   (Tunisia)

^c FONDATION JEAN DAUSSET CEPH   (France)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^e HACETTEPE UNIVERSITY   (Turkey)

^f BICÊTRE HOSPITAL   (France)

^g Service Pédiatrie   (France)

Author keywords

Bac Yac contig; GAN gene; Giant axon; Haplotype analysis; Homozygosity mapping; Linkage disequilibrium

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL ULTRASTRUCTURE; CHROMOSOME 16Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA TRANSCRIPTION; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GIANT AXON; HAPLOTYPE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; MARKER GENE; MENTAL DEFICIENCY; NERVE DEGENERATION; NERVE FIBER; NEUROFILAMENT; NEUROPATHY; PEDIGREE ANALYSIS; POLYNEUROPATHY; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETON MALFORMATION; TUNISIA;

AXONS; BONE AND BONES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; CONSANGUINITY; CONTIG MAPPING; DNA PRIMERS; FEMALE; HAPLOTYPES; HOMOZYGOTE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MENKES KINKY HAIR SYNDROME; MENTAL RETARDATION; MICROSATELLITE REPEATS; NEURODEGENERATIVE DISEASES; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYNEUROPATHIES;

EID: 17944390744     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200476     Document Type: Article

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