proline and Neurocutaneous Disorders

proline has been researched along with Neurocutaneous Disorders in 1 studies

Research

Studies (1)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	1 (100.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Aftimos, S; Bicknell, LS; Maw, MA; Pitt, J; Ramadas, R; Robertson, SP	1

Other Studies

1 other study(ies) available for proline and Neurocutaneous Disorders

Article	Year
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. European journal of human genetics : EJHG, 2008, Volume: 16, Issue:10 Topics: Adult; Aldehyde Dehydrogenase; Amino Acid Sequence; Base Sequence; Child; Child, Preschool; Conserved Sequence; Diagnosis, Differential; Female; Fibroblasts; Genes, Recessive; Glutamic Acid; Histidine; Humans; Immunohistochemistry; Male; Molecular Sequence Data; Mutation, Missense; Neurocutaneous Syndromes; New Zealand; Ornithine-Oxo-Acid Transaminase; Pedigree; Phenotype; Proline; Sequence Homology, Amino Acid	2008

Article

Year

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

European journal of human genetics : EJHG, 2008, Volume: 16, Issue:10

Topics: Adult; Aldehyde Dehydrogenase; Amino Acid Sequence; Base Sequence; Child; Child, Preschool; Conserved Sequence; Diagnosis, Differential; Female; Fibroblasts; Genes, Recessive; Glutamic Acid; Histidine; Humans; Immunohistochemistry; Male; Molecular Sequence Data; Mutation, Missense; Neurocutaneous Syndromes; New Zealand; Ornithine-Oxo-Acid Transaminase; Pedigree; Phenotype; Proline; Sequence Homology, Amino Acid

2008