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Volumn 274, Issue 41, 1999, Pages 28841-28844

Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene

(5) Okajima, Tetsuya a Fukumoto, Satoshi a,b Furukawat, Keiko a Urano, Takeshi a Furukawa, Koichi a

a NAGOYA UNIVERSITY SCHOOL OF MEDICINE (Japan)

b NAGASAKI UNIVERSITY (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GALACTOSYLTRANSFERASE;

ANIMAL CELL; ARTICLE; CASE REPORT; CELLULAR DISTRIBUTION; CHO CELL; EHLERS DANLOS SYNDROME; ENZYME DEFICIENCY; ENZYME LOCALIZATION; GENE MUTATION; HUMAN; L CELL; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; CHO CELLS; CLONING, MOLECULAR; CRICETINAE; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; FLUORESCENT ANTIBODY TECHNIQUE; GALACTOSYLTRANSFERASES; HETEROZYGOTE; HUMANS; L CELLS (CELL LINE); MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PROGERIA; SEQUENCE ALIGNMENT; TRANSFECTION;

ANIMALIA;

EID: 0032857187 PISSN: 00219258 EISSN: None Source Type: Journal
DOI: 10.1074/jbc.274.41.28841 Document Type: Article

Times cited : (144)

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