Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients

Yazar
Celkan, Tiraje
Kebudi, Rejin
TÜYSÜZ, Beyhan
Geyik, Filiz
Gunes, Nilay
Yesil, Gozde
Kasap, Busra
Üst veri
Tüm öğe kaydını göster
Özet
Objective To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).
Bağlantı
http://hdl.handle.net/20.500.12627/171702
https://doi.org/10.1111/ahg.12422
Koleksiyonlar