A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement

Human Genetics

Volumn 97, Issue 4, 1996, Pages 435-437

  Soda, Hiroko ^a   Yukizane, Shigenori ^a   Yoshida, Ichiro ^a   Koga, Yasutoshi ^a   Aramaki, Shuichi ^a   Kato, Hirohisa ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARBONATE DEHYDRATASE II; RESTRICTION ENDONUCLEASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; FEMALE; HUMAN; HUMAN CELL; JAPAN; MALE; MENTAL DEFICIENCY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RESTRICTION SITE;

CARBONIC ANHYDRASES; CENTRAL NERVOUS SYSTEM DISEASES; EXONS; HUMANS; JAPAN; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0029998762     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02267062     Document Type: Article

References (12)

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