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Cadilla, Carmen

One or more keywords matched the following items that are connected to Cadilla, Carmen

Item Type	Name
Academic Article	Asymptomatic child heterozygous for hemoglobin S and hemoglobin P?rto Alegre.
Academic Article	Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.
Academic Article	Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).
Academic Article	Pharmacogenetics of healthy volunteers in Puerto Rico.
Concept	Mutation
Concept	Mutation, Missense
Academic Article	Presence of the 5,10-methylenetetrahydrofolate reductase C677T mutation in Puerto Rican patients with neural tube defects.
Academic Article	Erythrocyte volume, folate levels, and the presence of methylenetetrahydrofolate reductase polymorphism.
Academic Article	Tyrosine B10 and heme-ligand interactions of Lucina pectinata hemoglobin II: control of heme reactivity.
Academic Article	Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
Academic Article	Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
Academic Article	Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.
Academic Article	A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).
Academic Article	Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.
Academic Article	Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.
Academic Article	Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.

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Mutation

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