Journal article

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis

TJM Hulsebos, SB Kenter, ME Jakobs, F Baas, B Chong, MB Delatycki

Clinical Genetics | WILEY | Published : 2010

DOI: 10.1111/j.1399-0004.2009.01249.x

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22Web of Science
29Scopus

Keywords

Dna-Binding Proteins
Germ Line
Female
Tumor-Suppressor Gene
Predisposition
Schwannomatosis
Chromosomal Proteins, Non-Histone
Germ-Line Mutation
Mosaicism
Hsnf5/ini1
Male
Pedigree
Transmission
Cancer
Smarcb1 Protein
Prevalence
Genetics & Heredity
Familial Schwannomatosis
Smarcb1
Genetic Predisposition To Disease
Middle Aged
Neurilemmoma
Chromosomes, Human, Pair 22
Mutation-Rate
Transcription Factors
Genetic Counseling
Nf2
Adult
Life Sciences & Biomedicine
Science & Technology
Humans
Type-2 Neurofibromatosis
Rna Splice Sites