Missense Mutation (I143T) in a Japanese Patient With Canavan Disease

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Kobayashi, Keiko ^a   Tsujino, Seiichi ^a   Ezoe, Takanori ^a   Hamaguchi, Hiroshi ^b   Nihei, Kenji ^c   Sakuragawa, Norio ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b Tokyo Metropolitan Higashiyamato Medical Center for the Severe Disabled   (Japan)

^c NATIONAL CHILDREN S HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMIDASE; ASPARTOACYLASE; DNA; CYTOSINE; N ACETYLASPARTIC ACID; THYMINE;

AMINO ACID SUBSTITUTION; ARTICLE; CANAVAN DISEASE; CHEMISTRY; ENZYMOLOGY; FAMILY HEALTH; FEMALE; GENETICS; HOMOZYGOTE; HUMAN; JAPAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; CASE REPORT; CONTROLLED STUDY; HUMAN CELL; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

AMIDOHYDROLASES; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CANAVAN DISEASE; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; JAPAN; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 0032238954     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110196     Document Type: Article

References (9)

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