A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia

Journal of Human Genetics

Volumn 43, Issue 2, 1998, Pages 135-137

  Kure, Shigeo ^a   Shinka, Toshikatsu ^a   Sakata, Yoshiyuki ^a   Osamu, Narasaki ^b   Takayanagi, Masaru ^a   Tada, Keiya ^c   Matsubara, Yoichi ^a   Narisawa, Kuniaki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b FUKUOKA CHILDREN S HOSPITAL   (Japan)

^c NTT East Tohoku Hospital   (Japan)

Author keywords

Compound heterozygosity; Japanese patient; Nonketotic hyperglycinemia; One base deletion; T protein gene

Indexed keywords

BOVINAE; ESCHERICHIA COLI; GALLUS GALLUS; PISUM SATIVUM;

AMINOMETHYLTRANSFERASE; ASPARTIC ACID; GLYCINE; TRANSFERASE;

ANIMAL; ARTICLE; ASIAN; BLOOD; CASE REPORT; CATTLE; CHEMISTRY; CODON; COMPARATIVE STUDY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; FEMALE; GENE DELETION; GENETICS; HUMAN; JAPAN; LIVER; MALE; MONOZYGOTIC TWINS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; POINT MUTATION; SPECIES DIFFERENCE; STRUCTURE ACTIVITY RELATION; TWINS;

AMINO ACID METABOLISM, INBORN ERRORS; AMINOMETHYLTRANSFERASE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; ASPARTIC ACID; CATTLE; CODON; DISEASES IN TWINS; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; GLYCINE; HUMANS; HYDROXYMETHYL AND FORMYL TRANSFERASES; INFANT, NEWBORN; JAPAN; LIVER; MALE; PEDIGREE; POINT MUTATION; SEQUENCE DELETION; SPECIES SPECIFICITY; STRUCTURE-ACTIVITY RELATIONSHIP; TWINS, MONOZYGOTIC;

EID: 0031626891     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050055     Document Type: Article

References (8)

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