A hemizygous GYG2 mutation and Leigh syndrome: A possible link?

Human Genetics

Volumn 133, Issue 2, 2014, Pages 225-234

  Imagawa, Eri ^a   Osaka, Hitoshi ^b   Yamashita, Akio ^a   Shiina, Masaaki ^a   Takahashi, Eihiko ^b   Sugie, Hideo ^c   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^a   Saitsu, Hirotomo ^a   Ogata, Kazuhiro ^a   Matsumoto, Naomichi ^a   Miyake, Noriko ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; PYRUVIC ACID;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; EXOME; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GLYCOGENIN 1 GENE; GLYCOGENIN 2 GENE; GLYCOSYLATION; HEMIZYGOSITY; HUMAN; LEIGH DISEASE; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE; WILD TYPE; YOUNG ADULT;

ADULT; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; EXOME; GLUCOSYLTRANSFERASES; GLYCOGEN; GLYCOPROTEINS; HEMIZYGOTE; HUMANS; ISOENZYMES; JAPAN; LEIGH DISEASE; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84893194744     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1372-6     Document Type: Article

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