Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia

Journal of Human Genetics

Volumn 46, Issue 7, 2001, Pages 378-384

  Kure, S ^a   Kojima, K ^a   Kudo, T ^a   Kanno, K ^a   Aoki, Y ^a   Suzuki, Y ^a   Shinka, T ^a   Sakata, Y ^a   Narisawa, K ^a   Matsubara, Y ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Direct sequencing analysis; Fluorescence in situ hybridization; Human PAC clone; RNA blot analysis; Transcription initiation site

Indexed keywords

GENE PRODUCT; GLYCINE CLEAVAGE SYSTEM;

ARTICLE; CHROMOSOME 16Q; CHROMOSOME STRUCTURE; DOT HYBRIDIZATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERGLYCINEMIA; INBORN ERROR OF METABOLISM; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PROTEIN DEFICIENCY; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION;

ALLELES; AMINO ACID OXIDOREDUCTASES; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; CLONING, MOLECULAR; EXONS; GLYCINE; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRONS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER;

EID: 17844406376     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380170057     Document Type: Article

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