Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
about
Functional specialization in proline biosynthesis of melanomaClinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Knockdown of PYCR1 inhibits cell proliferation and colony formation via cell cycle arrest and apoptosis in prostate cancer.Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction
P2860
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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name
Defect in proline synthesis: p ...... gen and elastin abnormalities.
@en
Defect in proline synthesis: p ...... gen and elastin abnormalities.
@nl
type
label
Defect in proline synthesis: p ...... gen and elastin abnormalities.
@en
Defect in proline synthesis: p ...... gen and elastin abnormalities.
@nl
prefLabel
Defect in proline synthesis: p ...... gen and elastin abnormalities.
@en
Defect in proline synthesis: p ...... gen and elastin abnormalities.
@nl
P2093
P2860
P1476
Defect in proline synthesis: p ...... gen and elastin abnormalities.
@en
P2093
Alessandra Baumer
Ariana Kariminejad
Bita Bozorgmehr
Cecilia Giunta
Ingrid Hausser
Johannes Häberle
Mohamad Hasan Kariminejad
Rita Kretz
P2860
P2888
P304
P356
10.1007/S10545-011-9319-3
P577
2011-04-13T00:00:00Z