TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

Langkau, Nicola; Martin, Nicola; Brandt, Regine; Zügge, Karin; Quast, Stefanie; Wiegele, Gerd; Jauch, Anna; Rehm, Marion; Kuhl, Andrea; Mack-Vetter, Monika; Zimmerhackl, Lothar Bernd; Janssen, Bart

Langkau, Nicola; Martin, Nicola; Brandt, Regine; Zügge, Karin; Quast, Stefanie; Wiegele, Gerd; Jauch, Anna; Rehm, Marion; Kuhl, Andrea; Mack-Vetter, Monika; Zimmerhackl, Lothar Bernd; Janssen, Bart.

Affiliation

Langkau N; Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.

Eur J Pediatr ; 161(7): 393-402, 2002 Jul.

Article in En | MEDLINE | ID: mdl-12111193

Subject(s)

Mutation; Pedigree; Tuberous Sclerosis/genetics; Blotting, Southern; Child; Child, Preschool; Cohort Studies; DNA Mutational Analysis; Female; Genetic Variation; Humans; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Male; Phenotype; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Prospective Studies; Sensitivity and Specificity

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Collection: 01-internacional Database: MEDLINE Main subject: Pedigree / Tuberous Sclerosis / Mutation Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Eur J Pediatr Year: 2002 Type: Article Affiliation country: Germany

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