MOLECULAR ANALYSIS OF A FEMALE LESCH-NYHAN PATIENT

[1] ELECTROPHORESIS OF PHOSPHOGLYCERATE KINASE [J]. BIOCHEMICAL GENETICS, 1969, 3 (02) : 189 - &

[2] VARIANT OF FACTOR-IX DEFICIENCY IN FEMALE WITH 45, X TURNERS SYNDROME [J]. BLOOD-THE JOURNAL OF HEMATOLOGY, 1970, 36 (02): : 169 - +

[3] MOLECULAR ANALYSIS OF A CONSTITUTIONAL X-AUTOSOME TRANSLOCATION IN A FEMALE WITH MUSCULAR-DYSTROPHY [J]. SCIENCE, 1987, 237 (4822) : 1620 - 1624

[4] 2 ANONYMOUS X-SPECIFIC HUMAN SEQUENCES DETECTING RESTRICTION FRAGMENT LENGTH POLYMORPHISMS IN REGION XQ26-]QTER [J]. SOMATIC CELL AND MOLECULAR GENETICS, 1984, 10 (06) : 607 - 613

[5] CLONED CDNA SEQUENCES OF THE HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE GENE FROM A MOUSE NEURO-BLASTOMA CELL-LINE FOUND TO HAVE AMPLIFIED GENOMIC SEQUENCES [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (06): : 1950 - 1954

[6] CONTROL OF CHROMOSOME INACTIVATION [J]. ANNUAL REVIEW OF GENETICS, 1975, 9 : 1 - 18

[7] LESCH-NYHAN SYNDROME - RAPID DETECTION OF HETEROZYGOTES BY USE OF HAIR FOLLICLES [J]. SCIENCE, 1971, 172 (3983) : 572 - +

[8] HEMOPHILIA A IN A PHENOTYPICALLY NORMAL FEMALE WITH XX/XO MOSAICISM [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1965, 273 (26) : 1402 - +

[9] The rate of spontaneous mutation of a human gene [J]. JOURNAL OF GENETICS, 1935, 31 (03) : 317 - 326

[10] JACOBS PA, 1981, AM J HUM GENET, V33, P513

[1] ELECTROPHORESIS OF PHOSPHOGLYCERATE KINASE [J]. BIOCHEMICAL GENETICS, 1969, 3 (02) : 189 - &

[2] VARIANT OF FACTOR-IX DEFICIENCY IN FEMALE WITH 45, X TURNERS SYNDROME [J]. BLOOD-THE JOURNAL OF HEMATOLOGY, 1970, 36 (02): : 169 - +

[3] MOLECULAR ANALYSIS OF A CONSTITUTIONAL X-AUTOSOME TRANSLOCATION IN A FEMALE WITH MUSCULAR-DYSTROPHY [J]. SCIENCE, 1987, 237 (4822) : 1620 - 1624

[4] 2 ANONYMOUS X-SPECIFIC HUMAN SEQUENCES DETECTING RESTRICTION FRAGMENT LENGTH POLYMORPHISMS IN REGION XQ26-]QTER [J]. SOMATIC CELL AND MOLECULAR GENETICS, 1984, 10 (06) : 607 - 613

[5] CLONED CDNA SEQUENCES OF THE HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE GENE FROM A MOUSE NEURO-BLASTOMA CELL-LINE FOUND TO HAVE AMPLIFIED GENOMIC SEQUENCES [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (06): : 1950 - 1954

[6] CONTROL OF CHROMOSOME INACTIVATION [J]. ANNUAL REVIEW OF GENETICS, 1975, 9 : 1 - 18

[7] LESCH-NYHAN SYNDROME - RAPID DETECTION OF HETEROZYGOTES BY USE OF HAIR FOLLICLES [J]. SCIENCE, 1971, 172 (3983) : 572 - +

[8] HEMOPHILIA A IN A PHENOTYPICALLY NORMAL FEMALE WITH XX/XO MOSAICISM [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1965, 273 (26) : 1402 - +

[9] The rate of spontaneous mutation of a human gene [J]. JOURNAL OF GENETICS, 1935, 31 (03) : 317 - 326

[10] JACOBS PA, 1981, AM J HUM GENET, V33, P513