Molecular analysis of TSC2/PKD1 contiguous gene deletion syndrome

Kobe Journal of Medical Sciences

Volumn 57, Issue 1, 2011, Pages

  Oyazato, Yoshinobu ^a   Iijima, Kazumoto ^a   Emi, Mitsuru ^b   Sekine, Takashi ^c   Kamei, Koichi ^d   Takanashi, Junichi ^e   Nakao, Hideto ^f   Namai, Yoshiyuki ^g   Nozu, Kandai ^a   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b DNA CHIP RESEARCH INC   (Japan)

^c TOHO UNIVERSITY OHASHI MEDICAL CENTER   (Japan)

^d NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^e KAMEDA MEDICAL CENTER   (Japan)

^f KOBE CHILDREN S HOSPITAL   (Japan)

^g OHTA NISHINOUCHI HOSPITAL   (Japan)

Author keywords

Array comparative genomic hybridization; Autosomal dominant polycystic kidney disease; Contiguous gene syndrome; Multiplex ligation dependent probe amplification; Tuberous sclerosis

Indexed keywords

CARRIER PROTEIN; POLYCYSTIN 1; SODIUM PROTON EXCHANGE PROTEIN 3; SODIUM PROTON EXCHANGE PROTEIN 3 RECEPTOR 2; TUBERIN; UNCLASSIFIED DRUG;

ADOLESCENT; ANGIOMYOLIPOMA; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GLOMERULUS FILTRATION RATE; HETEROZYGOSITY; HUMAN; INTRACTABLE EPILEPSY; KIDNEY CYST; KIDNEY DYSFUNCTION; KIDNEY POLYCYSTIC DISEASE; MENTAL DEFICIENCY; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRESCHOOL CHILD; PROGNOSIS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; TUBEROUS SCLEROSIS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DELETION; HUMANS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; SYNDROME; TRPP CATION CHANNELS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 79959605174     PISSN: 00232513     EISSN: 18830498     Source Type: Journal    
DOI: None     Document Type: Article

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