Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency

American Journal of Medical Genetics

Volumn 69, Issue 2, 1997, Pages 177-181

  Komaki, Satoru ^a   Matsuura, Toshinobu ^a   Oyanagi, Kazuhiko ^b   Hoshide, Ryuuji ^a   Kiwaki, Kohji ^a   Endo, Fumio ^a   Shimadzu, Mitsunobu ^c   Matsuda, Ichiro ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b SAPPORO MEDICAL UNIVERSITY   (Japan)

^c Mitsubishi Chemistry   (Japan)

Author keywords

germline mosaicism; OTC; skewed X inactivation; somatic mosaicism

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENETIC ANALYSIS; HUMAN; HYPERAMMONEMIA; MOSAICISM; PRESCHOOL CHILD; PRIORITY JOURNAL; SEX DETERMINATION; SOMATIC MUTATION; X CHROMOSOME LINKAGE;

FATAL OUTCOME; FEMALE; HETEROZYGOTE; HUMANS; INFANT; LINKAGE (GENETICS); MOSAICISM; ORNITHINE CARBAMOYLTRANSFERASE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; X CHROMOSOME;

SAMBUCUS NIGRA CANADENSIS;

EID: 0031041827     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970317)69:2<177::AID-AJMG12>3.0.CO;2-I     Document Type: Article

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