Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Por um escritor misterioso
Descrição
Rubinstein–Taybi syndrome: clinical and molecular overview
Identification of a novel de novo mutation of CREBBP in a patient
PDF) Loss of CBP acetyltransferase activity by PHD finger
PDF) Spectrum of CREBBP mutations in Indian patients with
Genes, Free Full-Text
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome
From Whole Gene Deletion to Point Mutations of EP300‐Positive
Opposing Effects of CREBBP Mutations Govern the Phenotype of
Clinical exome sequencing identifies novel CREBBP variants in 18
PDF) Clinical exome sequencing identifies novel CREBBP variants in
First case of Rubinstein–Taybi syndrome with desquamation
PDF) Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
de
por adulto (o preço varia de acordo com o tamanho do grupo)
