Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease.

Journal of medical genetics

Volumn 40, Issue 2, 2003, Pages

  Smulders, Y M ^a   Eussen, B H ^a   Verhoef, S ^a   Wouters, C H ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN; PROTEIN; REPRESSOR PROTEIN; TUBERIN; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 16; CHROMOSOME DELETION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE DELETION; GENETICS; HUMAN; KIDNEY POLYCYSTIC DISEASE;

ADOLESCENT; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; FOLLOW-UP STUDIES; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; POLYCYSTIC KIDNEY DISEASES; PROTEINS; REPRESSOR PROTEINS; TRPP CATION CHANNELS; TUMOR SUPPRESSOR PROTEINS;

MLCS; MLOWN;

EID: 18544407814     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.40.2.e17     Document Type: Article

References (0)