Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
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PDF) Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Identification of a novel de novo mutation of CREBBP in a patient
From Whole Gene Deletion to Point Mutations of EP300‐Positive
Genes, Free Full-Text
Rubinstein-Taybi Syndrome
CREBBP mutations in individuals without Rubinstein–Taybi syndrome
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
Two adults with Rubinstein–Taybi syndrome with mild mental
PDF) Loss of CBP acetyltransferase activity by PHD finger
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Insights into genotype–phenotype correlations from CREBBP point
IJMS, Free Full-Text
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