Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (Q54499768)

30 May 2018

title

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (English)

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30 May 2018

carnitine-acylcarnitine translocase deficiency

main subject

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author

Vito Iacobazzi

1

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30 May 2018

Federica Invernizzi

2

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Barbara Garavaglia

6

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Carlo Dionisi-Vici

7

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Antonia Ribes

object named as

Antonia Ribes

8

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Silvia Baratta

object named as

Silvia Baratta

3

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Rossella Parini

object named as

Rossella Parini

9

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author name string

Roser Pons

4

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30 May 2018

Wendy Chung

5

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30 May 2018

Maria Dolores Huertas

10

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Susana Roldan

11

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Graziantonio Lauria

12

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Ferdinando Palmieri

13

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Franco Taroni

14

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publication date

1 October 2004

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30 May 2018

published in

Human Mutation

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30 May 2018

volume

24

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issue

4

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30 May 2018

page(s)

312-320

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30 May 2018

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

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Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization

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Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20085

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30 May 2018

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30 May 2018