Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

European Journal of Human Genetics

Volumn 17, Issue 9, 2009, Pages 1200-1203

  Spiegel, Ronen ^a   Shaag, Avraham ^b   Mandel, Hanna ^c   Reich, Dan ^a   Penyakov, Marina ^a   Hujeirat, Yasir ^a   Saada, Ann ^b   Elpeleg, Orly ^b   Shalev, Stavit A ^a  

^a HAEMEK MEDICAL CENTER   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR PROTEIN; PROTEIN NDUFS6; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

APATHY; ARTICLE; BRAIN DISEASE; CASE REPORT; ENZYME ACTIVITY; FEMALE; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INFANT; JEW; LACTIC ACIDEMIA; LETHARGY; MALE; METABOLIC ACIDOSIS; NEWBORN DISEASE; PHENOTYPE; PRIORITY JOURNAL; TACHYPNEA;

ACIDOSIS, LACTIC; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; JEWS; MALE; MUTATION; NADH DEHYDROGENASE;

EID: 69249232275     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.24     Document Type: Article

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