Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. (Q31958280)

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7 December 2019

title

Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q (English)

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7 December 2019

main subject

whole genome sequencing

1 reference

3

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7 December 2019

author name string

C Paternotte

1

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7 December 2019

D Rudnicki

2

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7 December 2019

C S Davoine

4

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7 December 2019

D Mavel

5

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7 December 2019

A Dürr

6

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7 December 2019

D Samson

7

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7 December 2019

C Marquette

8

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7 December 2019

D Muselet

9

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7 December 2019

N Vega-Czarny

10

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7 December 2019

N Drouot

11

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7 December 2019

T Voit

12

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7 December 2019

B Fontaine

13

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7 December 2019

G Gyapay

14

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7 December 2019

G Auburger

15

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7 December 2019

J Weissenbach

16

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7 December 2019

J Hazan

17

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7 December 2019

publication date

1 November 1998

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7 December 2019

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7 December 2019

volume

8

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7 December 2019

page(s)

1216-1227

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7 December 2019

issue

11

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An STS-based radiation hybrid map of the human genome

7 December 2019

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1 reference

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Molecular genetics of familial spastic paraplegia: a multitude of responsible genes

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

21 June 2018

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21 June 2018

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Cloning of a novel human prostaglandin receptor with characteristics of the pharmacologically defined EP2 subtype

21 June 2018

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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

21 June 2018

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Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

21 June 2018

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Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity

21 June 2018

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Molecular cloning and characterization of human kinectin

21 June 2018

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The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein

21 June 2018

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Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Molecular Cloning and Expression of Biologically Active Human Glia Maturation Factor-?

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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A radiation hybrid map of the human genome

31 October 2018

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12 December 2020

Familial spastic paraplegia: evidence for a fourth locus

1 reference

12 December 2020

Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3.

1 reference

12 December 2020

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

1 reference

12 December 2020

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

1 reference

12 December 2020

Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q

1 reference

12 December 2020

Identifiers

DOI

10.1101/GR.8.11.1216

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7 December 2019

1 reference

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7 December 2019

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