(Q46145715)

19 December 2017

title

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients (English)

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19 December 2017

main subject

spinal muscular atrophy

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Thompson TG

1

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19 December 2017

DiDonato CJ

2

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19 December 2017

Simard LR

3

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19 December 2017

Ingraham SE

4

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19 December 2017

Burghes AH

5

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19 December 2017

Crawford TO

6

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19 December 2017

Rochette C

7

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19 December 2017

Mendell JR

8

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19 December 2017

Wasmuth JJ

9

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19 December 2017

language of work or name

English

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publication date

1 January 1995

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19 December 2017

published in

Nature Genetics

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19 December 2017

volume

9

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19 December 2017

page(s)

56-62

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19 December 2017

issue

1

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19 December 2017

https://scigraph.springernature.com/pub.10.1038/ng0195-56

exact match

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cites work

Classification of spinal muscular atrophies

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7 January 2021

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

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7 January 2021

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

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7 January 2021

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

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7 January 2021

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

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7 January 2021

Linkage analysis of spinal muscular atrophy

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7 January 2021

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families

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7 January 2021

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

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7 January 2021

Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.

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7 January 2021

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population

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7 January 2021

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

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7 January 2021

High resolution physical map of the region surrounding the spinal muscular atrophy gene

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7 January 2021

Triplex gene dosage effect of beta-glucuronidase and possible assignment to band q22 in a partial duplication 7q

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7 January 2021

Isolation and characterization of the human melanin-concentrating hormone gene and a variant gene

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7 January 2021

Assignment of the human pro-melanin-concentrating hormone gene (PMCH) to chromosome 12q23-q24 and two variant genes (PMCH1 and PMCHL2) to chromosome 5p14 and 5q12-q13.

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7 January 2021

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

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7 January 2021

A radiation hybrid map of 18 growth factor, growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5

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7 January 2021

Assignment of two human cell cycle genes, CDC25C and CCNB1, to 5q31 and 5q12, respectively

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7 January 2021

Isolation of a human cyclin cDNA: evidence for cyclin mRNA and protein regulation in the cell cycle and for interaction with p34cdc2

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7 January 2021

Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia

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7 January 2021

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

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7 January 2021

The structural basis of the multiple forms of human complement component C4.

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7 January 2021

Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types

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7 January 2021

The molecular genetics of 21-hydroxylase deficiency

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7 January 2021

Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus

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7 January 2021

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region

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7 January 2021

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

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7 January 2021

Identifiers

DOI

10.1038/NG0195-56

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19 December 2017

PubMed ID

7704025

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19 December 2017