Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33 - Wikidata - wikimedia - TriplyDB

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

http://www.wikidata.org/entity/Q28257920

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families Congenital muscular dystrophy: from muscle to brain Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics.Syndromes with lissencephaly.Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.Investigation of muscle disease.Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis.Laminins and human disease.Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability.A novel pattern of oculocerebral malformation.Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse.Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium.Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.The congenital muscular dystrophies: recent advances and molecular insights.Congenital protein hypoglycosylation diseases.Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994.Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children.Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept.Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil.De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome.Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy.Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis.Synchronous multiple primary gastrointestinal cancer exhibits frequent microsatellite instability.Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan Congenital Muscular Dystrophy Associated With Merosin Deficiency

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P2860

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

http://www.wikidata.org/entity/Q28257920

description

1993 nî lūn-bûn

@nan

1993 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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1993 թվականի նոյեմբերին հրատարակված գիտական հոդված

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1993年の論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

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1993年论文

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name

Localization of a gene for Fuk ...... ystrophy to chromosome 9q31-33

@ast

Localization of a gene for Fuk ...... ystrophy to chromosome 9q31-33

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Localization of a gene for Fuk ...... ystrophy to chromosome 9q31-33

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type

label

Localization of a gene for Fuk ...... ystrophy to chromosome 9q31-33

@ast

Localization of a gene for Fuk ...... ystrophy to chromosome 9q31-33

@en

Localization of a gene for Fuk ...... ystrophy to chromosome 9q31-33

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prefLabel

Localization of a gene for Fuk ...... ystrophy to chromosome 9q31-33

@ast

Localization of a gene for Fuk ...... ystrophy to chromosome 9q31-33

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Localization of a gene for Fuk ...... ystrophy to chromosome 9q31-33

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Nature Genetics

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Localization of a gene for Fuk ...... ystrophy to chromosome 9q31-33

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P2093

I Nonaka

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I Tomita

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K Masuda

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M Sakai

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M Segawa

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P2860

Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

Membrane organization of the dystrophin-glycoprotein complex

A second-generation linkage map of the human genome.

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping.

Genetic linkage of Werner's syndrome to five markers on chromosome 8.

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.

Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy.

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

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283-6

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scholarly article

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3805340

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10.1038/NG1193-283

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