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Publications by P M Schneider

Genetic Basis of Human Complement C4A Deficiency. Detection of a Point Mutation Leading to Nonexpression.

Journal of Clinical Investigation

English

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909 Molecular Basis of a Genetic Deficiency of the Second Complement Component (C2)

Pediatric Research

English

A Single Point Mutation Leading to Loss of Catalytic Activity in Human Thiopurine S-Methyltransferase.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Complete Human CD1a Deficiency on Langerhans Cells Due to a Rare Point Mutation in the Coding Sequence

Journal of Allergy and Clinical Immunology

English

The Genetic Basis of Mutation Rate Variation in Yeast

English

A Canine Arylsulfatase G (ARSG) Mutation Leading to a Sulfatase Deficiency Is Associated With Neuronal Ceroid Lipofuscinosis

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Complement-Human Histocompatibility Antigen Haplotypes in C2 Deficiency.

Journal of Clinical Investigation

English

Cytochrome C Oxidase Deficiency Associated With the First Stop-Codon Point Mutation in Human mtDNA

American Journal of Human Genetics

English

Vitamin B12 Deficiency Leading to Depression

Journal of Medical Science And clinical Research

English

Gain-Of-Function IKBKB Mutation Causes Human Combined Immune Deficiency

Journal of Experimental Medicine

English