Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy-Reference-Cited by-同舟云学术

Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy

Published:2010-10-01 Issue:5 Volume:30 Page:516-520
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Kang Dong-Hee¹,Lee Dong Hwan²,Hong Yong-Hee²,Lee Seung-Tae³,Jeon Byung Ryul¹,Lee You Kyoung¹,Ki Chang-Seok³,Lee Yong-Wha¹

Affiliation:

1. Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea

2. Department of Pediatrics, Soonchunhyang University Hospital and Soonchunhyang University College of Medicine, Seoul, Korea

3. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/kjlm.2010.30.5.516

Reference16 articles.

1. Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.

2. A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

3. Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options

4. The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.

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