(Q34747363)

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Prenatal diagnosis of Niemann-Pick diseases types A, B and C.

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4 August 2017

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Prenatal diagnosis of Niemann-Pick diseases types A, B and C. (English)

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4 August 2017

Marie T Vanier

1

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1 July 2002

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4 August 2017

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Europe PubMed Central

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22

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7

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630-632

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4 August 2017

Multidrug permeases and subcellular cholesterol transport

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21 January 2018

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

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21 January 2018

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop

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21 January 2018

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

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21 January 2018

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

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21 January 2018

SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type C.

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21 January 2018

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10.1002/PD.368

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Europe PubMed Central

4 August 2017

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Europe PubMed Central

PubMed ID

12124701

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4 August 2017

(Q34747363)

Prenatal diagnosis of Niemann-Pick diseases types A, B and C.

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