Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3 (Q57319948)

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C. Longman

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M. Brockington

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I. Mahjneh

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L. Sagi

5

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K. Bushby

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H. Topaloğlu

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R. S. Houlston

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

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publication date

11 May 2005

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published in

Human Genetics

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volume

117

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issue

2-3

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page(s)

207-212

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cites work

1 reference

12 December 2020

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

1 reference

12 December 2020

Identification of genes (SPON2 and C20orf2) differentially expressed between cancerous and noncancerous lung cells by mRNA differential display

1 reference

12 December 2020

Frameshift mutation in the collagen VI gene causes Ullrich's disease

1 reference

12 December 2020

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

1 reference

12 December 2020

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

1 reference

12 December 2020

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

12 December 2020

22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993

1 reference

12 December 2020

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

1 reference

12 December 2020

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

1 reference

12 December 2020

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

1 reference

12 December 2020

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

1 reference

12 December 2020

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

1 reference

12 December 2020

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays

1 reference

12 December 2020

Merosin-positive congenital muscular dystrophy: a large inbred family

1 reference

12 December 2020

The congenital muscular dystrophies in 2004: a century of exciting progress

1 reference

12 December 2020

The genomic organization of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates

1 reference

12 December 2020

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

12 December 2020

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

1 reference

12 December 2020

A large inbred Palestinian family with two forms of muscular dystrophy

1 reference

12 December 2020

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

1 reference

12 December 2020

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

1 reference

12 December 2020