Molecular and functional analysis ofSLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency-Reference-Cited by-同舟云学术

Molecular and functional analysis ofSLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency

Published:2004 Issue:4 Volume:24 Page:312-320
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Iacobazzi Vito,Invernizzi Federica,Baratta Silvia,Pons Roser,Chung Wendy,Garavaglia Barbara,Dionisi-Vici Carlo,Ribes Antonia,Parini Rossella,Huertas Maria Dolores,Roldan Susana,Lauria Graziantonio,Palmieri Ferdinando,Taroni Franco

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference33 articles.

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

2. Recommendations for a nomenclature system for human gene mutations

3. Listening to silence and understanding nonsense: exonic mutations that affect splicing

4. Mutational spectrum and DNA-based prenatal diagnosis in carnitine–acylcarnitine translocase deficiency

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