A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

Human Genetics

Volumn 102, Issue 4, 1998, Pages 430-434

  Kure, Shigeo ^a   Mandel, Hanna ^b   Rolland, Marie Odile ^c   Sakata, Yoshiyuki ^a   Shinka, Toshikatsu ^a   Drugan, Aryeb ^b   Boneh, Avihu ^d   Tada, Keiya ^e   Matsubara, Yoichi ^a   Narisawa, Kuniaki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b RAMBAM MEDICAL CENTER   (Israel)

^c HÔPITAL DEBROUSSE   (France)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e NTT Tohoku Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; GLYCINE; GLYCINE CLEAVAGE SYSTEM; HISTIDINE;

AMINO ACID SUBSTITUTION; ARAB; ARTICLE; CATTLE; CHICKEN; CONTROLLED STUDY; ENZYME ACTIVITY; ESCHERICHIA COLI; EXON; GENE SEQUENCE; GENETIC COUNSELING; GENOTYPE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPERGLYCINEMIA; ISRAEL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEIZURE;

BOS TAURUS; BOVINAE; ESCHERICHIA COLI; GALLUS GALLUS; PISUM SATIVUM;

EID: 0031924513     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050716     Document Type: Article

References (12)

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