Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Alpay Çakmak

Harderoporphyria Due to Homozygosity for Coproporphyrinogen Oxidase Missense Mutation H327R

Journal of Inherited Metabolic Disease

English

Related publications

Homozygosity for a FBN1 Missense Mutation: Clinical and Molecular Evidence for Recessive Marfan Syndrome

European Journal of Human Genetics

English

Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene

American Journal of Human Genetics

English

The Mitochondrial Localization of Coproporphyrinogen III Oxidase

Biochemical Journal

Molecular Biology

English

The Substrate Radical ofEscherichia coliOxygen-independent Coproporphyrinogen III Oxidase HemN

Journal of Biological Chemistry

Molecular Biology

English

Cytochrome C Oxidase Deficiency Due to Novel SCO2 Mutation Mimics Werdnig-Hoffmann Disease—Correction

Archives of Neurology

English

Severe Meesmann’s Epithelial Corneal Dystrophy Phenotype Due to a Missense Mutation in the Helix-Initiation Motif of Keratin 12

Sensory Systems

English

Lissencephaly Due to LIS1 Mutation

English

Kinetic Alterations Due to a Missense Mutation in the Na,K-ATPase Α2 Subunit Cause Familial Hemiplegic Migraine Type 2

Journal of Biological Chemistry

Molecular Biology

English

Multiple Mechanisms for the Regulation of Haem Synthesis During Erythroid Cell Differentiation. Possible Role for Coproporphyrinogen Oxidase

Biochemical Journal

Molecular Biology

English