Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria–type neuronal migration disorder of the brain. A similar combination of muscle and bra...

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Veröffentlicht in:	American journal of human genetics 1999, Vol.64 (1), p.126-135
Hauptverfasser:	Cormand, Bru, Avela, Kristiina, Pihko, Helena, Santavuori, Pirkko, Talim, Beril, Topaloglu, Haluk, de la Chapelle, Albert, Lehesjoki, Anna-Elina
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Blindness - genetics Brain - abnormalities Chromosome Banding Chromosome Mapping Chromosomes, Human, Pair 1 Complex syndromes Congenital muscular dystrophy Gene assignment Genetic Linkage Haplotypes Homozygosity mapping Homozygote Humans Intellectual Disability - genetics Linkage analysis Linkage Disequilibrium Lod Score Magnetic Resonance Imaging Medical genetics Medical sciences Microsatellite Repeats Molecular Sequence Data Muscle Hypotonia - genetics Muscle-eye-brain disease Muscular Dystrophies - genetics Neuronal migration disorder Pedigree Syndrome
Online-Zugang:	Volltext
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