Autosomal Recessive

Autosomal recessive primary microcephalies (MCPH)

Humans / Microcephaly / Clinical Sciences / Autosomal Recessive / Neurosciences

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

Biological Sciences / Humans / Female / Male / Cataract / Pedigree / Phenotype / Middle Aged / Adult / Age Factors / Autosomal Recessive / Genetic Markers / The American / Pedigree / Phenotype / Middle Aged / Adult / Age Factors / Autosomal Recessive / Genetic Markers / The American

Analbuminaemia: a natural model of metabolic compensatory systems

Electron Microscopy / Phospholipids / Lipids / Humans / Cholesterol / Female / Male / Sodium Dodecyl Sulfate-Polyacrylamide Gel Electrophoresis / Lipoprotein(a) / Clinical Sciences / Middle Aged / Autosomal Recessive / Clinical Signs / Blood Proteins / Sibling Relations / Apoproteins / Serum albumin / Female / Male / Sodium Dodecyl Sulfate-Polyacrylamide Gel Electrophoresis / Lipoprotein(a) / Clinical Sciences / Middle Aged / Autosomal Recessive / Clinical Signs / Blood Proteins / Sibling Relations / Apoproteins / Serum albumin

Autosomal Recessive Proximal Renal Tubular Acidosis

Autosomal Recessive / Renal tubular acidosis

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Electroencephalography / Mitochondria / Biological Sciences / Humans / Female / Male / Karyotyping / Autosomal Recessive / Glutamic Acid / Glutamate Transporter / The American / Male / Karyotyping / Autosomal Recessive / Glutamic Acid / Glutamate Transporter / The American

Albinism in Africa as a public health issue

Genetics / Folklore / Population Genetics / Africa / Prejudice / Health Education / Public Health / Humans / Mutation / Membrane transport proteins / Social Issues / Prevalence / Public health systems and services research / Ethnic Group / World Health Organization / Autosomal Recessive / Health Education / Public Health / Humans / Mutation / Membrane transport proteins / Social Issues / Prevalence / Public health systems and services research / Ethnic Group / World Health Organization / Autosomal Recessive

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

Genetics / Human Genetics / Lebanon / Molecular Genetics / Intellectual Disability / Mental Retardation / Cytogenetics / Humans / Clinical Genetics / C2H2 zinc fingers / Cerebellar ataxia / Genetic linkage analysis / European / Zinc Finger / Family Health / DNA binding / Disease Progression / Amino Acid Profile / Amino Acid Sequence / Autosomal Recessive / DNA binding proteins / Genetic Markers / Gene Expression Regulation / Zinc Finger Protein / Molecular Sequence Data / Mental Retardation / Cytogenetics / Humans / Clinical Genetics / C2H2 zinc fingers / Cerebellar ataxia / Genetic linkage analysis / European / Zinc Finger / Family Health / DNA binding / Disease Progression / Amino Acid Profile / Amino Acid Sequence / Autosomal Recessive / DNA binding proteins / Genetic Markers / Gene Expression Regulation / Zinc Finger Protein / Molecular Sequence Data

Analbuminaemia: a natural model of metabolic compensatory systems

Electron Microscopy / Phospholipids / Lipids / Humans / Cholesterol / Female / Male / Sodium Dodecyl Sulfate-Polyacrylamide Gel Electrophoresis / Lipoprotein(a) / Clinical Sciences / Middle Aged / Autosomal Recessive / Clinical Signs / Lipoprotein a / Blood Proteins / Sibling Relations / Apoproteins / Serum albumin / Female / Male / Sodium Dodecyl Sulfate-Polyacrylamide Gel Electrophoresis / Lipoprotein(a) / Clinical Sciences / Middle Aged / Autosomal Recessive / Clinical Signs / Lipoprotein a / Blood Proteins / Sibling Relations / Apoproteins / Serum albumin

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