Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.
Woerner
Audrey C
AC
Au
Kit-Sing
KS
Williams
Aimee T
AT
Harris
Peter C
PC
Northrup
Hope
H
D019943:Amino Acid Substitution; D002885:Chromosomes, Human, Pair 16; D002894:Chromosomes, Human, Pair 4; D002899:Chromosomes, Human, Pair 9; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D015994:Incidence; D008297:Male; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D020125:Mutation, Missense; D010375:Pedigree; D019683:Penetrance; D007690:Polycystic Kidney Diseases / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D011506:Proteins / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA; D012720:Severity of Illness Index; D050396:TRPP Cation Channels; D014364:Tryptophan / Q000378:metabolism; D014402:Tuberous Sclerosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism
D005819:Genetic Markers; D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels; D014364:Tryptophan; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins