Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients (Q85407581)

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17 February 2020

title

Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients (English)

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17 February 2020

2

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Judit Macías-Vidal

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Bru Cormand

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D Grinberg

8

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author name string

Laura Rodríguez-Pascau

1

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17 February 2020

Mónica Cozar

4

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Lilia Lykopoulou

6

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Maria Josep Coll

7

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Lluïsa Vilageliu

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publication date

14 October 2012

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Molecular Genetics and Metabolism

17 February 2020

published in

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volume

107

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issue

4

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page(s)

716-720

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Niemann-Pick disease type C

17 February 2020

cites work

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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

7 January 2021

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Identification of HE1 as the second gene of Niemann-Pick C disease

7 January 2021

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Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

7 January 2021

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Structure and function of the NPC2 protein

7 January 2021

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NPC-db, a Niemann-Pick type C disease gene variation database

7 January 2021

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NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes

7 January 2021

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Molecular analysis of 30 Niemann-Pick type C patients from Spain

7 January 2021

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Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

7 January 2021

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Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease

7 January 2021

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High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

7 January 2021

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Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends

7 January 2021

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An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

7 January 2021

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Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

7 January 2021

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Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)

7 January 2021

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Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event

7 January 2021

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Inversion and deletion of 16q22 defined by array CGH, FISH, and RT-PCR in a patient with AML.

7 January 2021

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Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

7 January 2021

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Whole population, genome-wide mapping of hidden relatedness

7 January 2021

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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

7 January 2021

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10.1016/J.YMGME.2012.10.004

7 January 2021

Identifiers

DOI

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17 February 2020

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