Mutations inHADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy-Reference-Cited by-同舟云学术

Mutations inHADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy

Published:2014-03-24 Issue:5 Volume:164 Page:1180-1187
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet

Author:

Naiki Misako¹²,Ochi Nobuhiko³,Kato Yusuke S.⁴,Purevsuren Jamiyan⁵,Yamada Kenichiro¹,Kimura Reiko¹,Fukushi Daisuke¹,Hara Shinya⁶,Yamada Yasukazu¹,Kumagai Toshiyuki⁷,Yamaguchi Seiji⁵,Wakamatsu Nobuaki¹

Affiliation:

1. Department of Genetics; Institute for Developmental Research; Aichi Human Service Center; Kasugai Aichi Japan

2. Department of Pediatrics; Nagoya University Graduate School of Medicine; Nagoya Aichi Japan

3. Department of Pediatrics; Daini-Aoitori Gakuen; Aichi Prefectural Hospital and Habilitation Center for Disabled Children; Okazaki Aichi Japan

4. Institute for Health Science; Tokushima Bunri University; Tokushima Japan

5. Department of Pediatrics; Shimane University; Faculty of Medicine; Izumo Shimane Japan

6. Department of Pediatrics; Toyota Memorial Hospital; Toyota Aichi Japan

7. Department of Pediatric Neurology; Kobato Gakuen; Aichi Human Service Center; Kasugai Aichi Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

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3. Hypoparathyroidism in mitochondrial trifunctional protein deficiency;Dionisi-Vici;J Pediatr,1996

4. SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling;Guex;Electrophoresis,1997

5. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein;IJlst;Biochim Biophys Acta,1994

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