FABRY DISEASE - MOLECULAR DIAGNOSIS OF HEMIZYGOTES AND HETEROZYGOTES

[1] STRUCTURE OF ADENOSINE-DEAMINASE MESSENGER-RNAS FROM NORMAL AND ADENOSINE DEAMINASE-DEFICIENT HUMAN CELL-LINES [J]. MOLECULAR AND CELLULAR BIOLOGY, 1984, 4 (09) : 1712 - 1717

[2] Anderson W., 1898, BRIT J DERMATOL, V10, P113, DOI DOI 10.1111/J.1365-2133.1898.TB16317.X

[3] AVILA JL, 1973, BRIT J DERMATOL, V89, P149

[4] BACH G, 1982, CLIN GENET, V21, P59

[5] RESTRICTION SITES CONTAINING CPG SHOW A HIGHER FREQUENCY OF POLYMORPHISM IN HUMAN DNA [J]. CELL, 1984, 36 (01) : 131 - 138

[6] BEAUDET AL, 1978, CLIN GENET, V13, P251

[7] ARE U4 SMALL NUCLEAR RIBONUCLEOPROTEINS INVOLVED IN POLYADENYLATION [J]. NATURE, 1984, 309 (5964) : 179 - 182

[8] BERNSTEIN H S, 1986, American Journal of Human Genetics, V39, pA188

[9] BERNSTEIN HS, 1987, IN PRESS J CLIN INVE

[10] BEUTLER E, 1973, NEW ENGL J MED, V289, P694

[1] STRUCTURE OF ADENOSINE-DEAMINASE MESSENGER-RNAS FROM NORMAL AND ADENOSINE DEAMINASE-DEFICIENT HUMAN CELL-LINES [J]. MOLECULAR AND CELLULAR BIOLOGY, 1984, 4 (09) : 1712 - 1717

[2] Anderson W., 1898, BRIT J DERMATOL, V10, P113, DOI DOI 10.1111/J.1365-2133.1898.TB16317.X

[3] AVILA JL, 1973, BRIT J DERMATOL, V89, P149

[4] BACH G, 1982, CLIN GENET, V21, P59

[5] RESTRICTION SITES CONTAINING CPG SHOW A HIGHER FREQUENCY OF POLYMORPHISM IN HUMAN DNA [J]. CELL, 1984, 36 (01) : 131 - 138

[6] BEAUDET AL, 1978, CLIN GENET, V13, P251

[7] ARE U4 SMALL NUCLEAR RIBONUCLEOPROTEINS INVOLVED IN POLYADENYLATION [J]. NATURE, 1984, 309 (5964) : 179 - 182

[8] BERNSTEIN H S, 1986, American Journal of Human Genetics, V39, pA188

[9] BERNSTEIN HS, 1987, IN PRESS J CLIN INVE

[10] BEUTLER E, 1973, NEW ENGL J MED, V289, P694