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

American Journal of Medical Genetics, Part A

Volumn 164, Issue 5, 2014, Pages 1180-1187

  Naiki, Misako ^a,b   Ochi, Nobuhiko ^c   Kato, Yusuke S ^d   Purevsuren, Jamiyan ^e   Yamada, Kenichiro ^a   Kimura, Reiko ^a   Fukushi, Daisuke ^a   Hara, Shinya ^f   Yamada, Yasukazu ^a   Kumagai, Toshiyuki ^a   Yamaguchi, Seiji ^e   Wakamatsu, Nobuaki ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Second Aoitori Gakuen   (Japan)

^d TOKUSHIMA BUNRI UNIVERSITY   (Japan)

^e SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

^f TOYOTA MEMORIAL HOSPITAL   (Japan)

Author keywords

HADHB; Hypoparathyroidism; LCKT; MTP deficiency; Peripheral polyneuropathy

Indexed keywords

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN BETA SUBUNIT;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE STRUCTURE; HADHB GENE; HUMAN; HUMAN CELL; HYPOPARATHYROIDISM; INFANT; INFANTILE ONSET HYPOPARATHYROIDISM; MALE; MISSENSE MUTATION; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; POLYNEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; RHABDOMYOLYSIS; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; STRUCTURE ANALYSIS;

EID: 84898888759     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36434     Document Type: Article

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