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Publications by Ulrike Schwarze

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

American Journal of Human Genetics

English

Survival Is Affected by Mutation Type and Molecular Mechanism in Vascular Ehlers–Danlos Syndrome (EDS Type IV)

Genetics in Medicine

English

Related publications

Autosomal Dominant Cutis Laxa

English

Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families With Cutis Laxa Type 2

American Journal of Human Genetics

English

Autosomal Recessive Cutis Laxa Type 2B

English

Congenital Cutis Laxa With a Dominant Inheritance and Early Onset Emphysema.

Respiratory Medicine

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

Pyrroline-5-Carboxylate Reductase in Human Erythrocytes.

Journal of Clinical Investigation

English

Pyrroline-5-Carboxylate Reductase 1 (PYCR1)

Science-Business eXchange

English

Cutis Laxa: A Feature of Costello Syndrome.

Journal of Medical Genetics

English