Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.
about
Clinical and molecular review of atypical congenital adrenal hyperplasiaThe next 150 years of congenital adrenal hyperplasia.Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide CohortNovel SCC mutation in a patient of Mexican descent with sex reversal, salt-losing crisis and adrenal failure.Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in ChildrenMeasurement of Mitochondrial Cholesterol Import Using a Mitochondria-Targeted CYP11A1 Fusion Construct.Misregulated progesterone secretion and impaired pregnancy in Cyp11a1 transgenic mice.Prenatal phthalate exposure and altered patterns of DNA methylation in cord blood.A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.Effect of antioxidant of bamboo leaves on gene expression associated with mouse embryonic fibroblast reproduction and embryonic development.Congenital Adrenal Hyperplasia.Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene
P2860
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P2860
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Varied clinical presentations ...... hain cleavage enzyme, P450scc.
@ast
Varied clinical presentations ...... hain cleavage enzyme, P450scc.
@en
type
label
Varied clinical presentations ...... hain cleavage enzyme, P450scc.
@ast
Varied clinical presentations ...... hain cleavage enzyme, P450scc.
@en
prefLabel
Varied clinical presentations ...... hain cleavage enzyme, P450scc.
@ast
Varied clinical presentations ...... hain cleavage enzyme, P450scc.
@en
P2093
P2860
P50
P356
P1476
Varied clinical presentations ...... chain cleavage enzyme, P450scc
@en
P2093
Ana Kaplinsky
Barak Markus
Mark Harris
Meng Kian Tee
Michal Abramsohn
Neta Loewenthal
Ruti Parvari
Sudeep Siwach
Walter L Miller
P2860
P304
P356
10.1210/JC.2012-2828
P407
P577
2013-01-21T00:00:00Z