(Q34207198)

31 July 2017

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis (English)

1 reference

Infantile neuronal ceroid lipofuscinosis

31 July 2017

0 references

Jansky–Bielschowsky disease

1 reference

Sara E Mole

6

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author name string

Julie D Sharp

1

1 reference

31 July 2017

Ruth B Wheeler

2

1 reference

31 July 2017

Keith A Parker

3

1 reference

31 July 2017

R Mark Gardiner

4

1 reference

31 July 2017

Ruth E Williams

5

1 reference

31 July 2017

language of work or name

English

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publication date

1 July 2003

1 reference

31 July 2017

1 reference

31 July 2017

22

1 reference

31 July 2017

1

1 reference

31 July 2017

35-42

1 reference

Tandem repeats finder: a program to analyze DNA sequences

31 July 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Origins and divergence of the Roma (gypsies)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

A high-resolution recombination map of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Neuronal ceroid-lipofuscinoses in childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

A variant of Jansky-Bielschowsky disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

The genome-wide distribution of background linkage disequilibrium in a population isolate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10227

7 January 2021

Identifiers

DOI

10.1002/HUMU.10227

1 reference

31 July 2017

1 reference