Literature citations
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not.
Mimault C.; Giraud G.; Courtois V.; Cailloux F.; Boire J.Y.; Dastugue B.; Boespflug-Tanguy O.; Baethmann M.; Bertini E.; Cuisset J.M.; Gaertner J.; Hanefeld F.; Kohlschutter A.; Landrieu P.; Mayer M.; Peudenier S.; Rodriguez D.; Rating D.; Surtees R.; Uziel G.; Vallee L.; Voit T.;
Am. J. Hum. Genet. 65:360-369(1999)
Cited for: VARIANTS HLD1 TYR-35; THR-39; CYS-60; ARG-74; ARG-169; CYS-175; CYS-181; ASN-183; ASN-203; GLU-203; GLY-203; HIS-210; ARG-212; SER-216; TYR-228; PRO-234; GLU-246 AND GLU-248;
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.
Cailloux F.; Gauthier-Barichard F.; Mimault C.; Isabelle V.; Courtois V.; Giraud G.; Dastugue B.; Boespflug-Tanguy O.; Baethmann M.; Bertini E.; Cuisset J.M.; Gaertner J.; Hanefeld F.; Kohlschutter A.; Landrieu P.; Mayer M.; Peudenier S.; Rodriguez D.; Rating D.; Surtees R.; Uziel G.; Vallee L.; Voit T.;
Eur. J. Hum. Genet. 8:837-845(2000)
Cited for: VARIANTS HLD1 PRO-31; LEU-32; SER-51; ARG-74; CYS-181; GLU-203; ARG-212 AND ALA-216; VARIANT SPG2 TYR-130;
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