Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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Principles of the two approaches to investigate non-sequential
Frontiers A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions
CREBBP - Wicipedia
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Characterization of splice-altering mutations in inherited predisposition to cancer
Graphical representation of the analysis of recursive splicing. Black
Rahikkala ELISA, Oulu University Hospital, Oulu, Department of Clinical Genetics
Classification of reads from the capture dataset mapped to FXR1. For
Short Report European Journal of Human Genetics
Arie van Haeringen's research works Leiden University, Leiden (LEI) and other places
Comprehensive characterisation of intronic mis-splicing mutations in human cancers
Splicing mutations in human genetic disorders: examples, detection, and confirmation
Splice-Site Mutations: A Novel Genetic Mechanism of Crigler-Najjar Syndrome Type 1 - ScienceDirect
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