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Publications by R Pfutzer

Novel Cationic Trypsinogen (PRSS1) N29T and R122C Mutations Cause Autosomal Dominant Hereditary Pancreatitis

Gastroenterology

English

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Autosomal Dominant Hereditary Spastic Paraplegia: Novel Mutations in the REEP1 Gene (SPG31)

BMC Medical Genetics

English

Mutations in SEC63 Cause Autosomal Dominant Polycystic Liver Disease

Nature Genetics

English

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

American Journal of Human Genetics

English

Novel Truncation Mutations in MYRF Cause Autosomal Dominant High Hyperopia Mapped to 11p12–q13.3

English

PRSS1 Intron Mutations in Patients With Pancreatic Cancer and Chronic Pancreatitis

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

Human Cationic Trypsinogen

Journal of Biological Chemistry

Molecular Biology

English

Pathogenic Cellular Role of the p.L104P Human Cationic Trypsinogen Variant in Chronic Pancreatitis

American Journal of Physiology - Gastrointestinal and Liver Physiology

Gastroenterology

English

Mutations in Anionic Trypsinogen Gene Are Not Associated With Tropical Calcific Pancreatitis

Gastroenterology

English

Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

American Journal of Human Genetics

English