Title : Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Pub. Date : 2013 Nov

PMID : 24035636






4 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo synthesis pathway. Proline pyrroline-5-carboxylate reductase 1 Homo sapiens
2 Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo synthesis pathway. Proline pyrroline-5-carboxylate reductase 1 Homo sapiens
3 Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo synthesis pathway. Proline pyrroline-5-carboxylate reductase 1 Homo sapiens
4 Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo synthesis pathway. Proline pyrroline-5-carboxylate reductase 1 Homo sapiens