Adult onset globoid cell leukodystrophy (Krabbe disease): Analysis of galactosylceramidase cDNA from four Japanese patients

Human Genetics

Volumn 100, Issue 3-4, 1997, Pages 450-456

  Furuya, Hirokazu ^a   Kukita, Yoh Ji ^a   Nagano, Sukehisa ^a   Sakai, Yasuyoshi ^a   Yamashita, Yoriaki ^b   Fukuyama, Hidenao ^c   Inatomi, Yuichiro ^d   Saito, Yutaka ^e   Koike, Ryoko ^e   Tsuji, Shoji ^e   Fukumaki, Yasuyuki ^a   Hayashi, Kenshi ^a   Kobayashi, Takuro ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b MATSUYAMA RED CROSS HOSPITAL   (Japan)

^c KYOTO UNIVERSITY   (Japan)

^d ASO IIZUKA HOSPITAL   (Japan)

^e NIIGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GALACTOSYLCERAMIDASE; MESSENGER RNA;

ADULT; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME POLYMORPHISM; GENE; GLOBOID CELL LEUKODYSTROPHY; HUMAN; HUMAN CELL; JAPAN; LEUKOCYTE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SPASTIC PARAPLEGIA;

ADULT; AGE OF ONSET; ANIMALS; CLONING, MOLECULAR; COS CELLS; DNA, COMPLEMENTARY; GALACTOSYLCERAMIDASE; HUMANS; JAPAN; LEUKODYSTROPHY, GLOBOID CELL; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0030924037     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050532     Document Type: Article

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