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alanine and Marfan Syndrome, Type I

alanine has been researched along with Marfan Syndrome, Type I in 2 studies

Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.

Research Excerpts

ExcerptRelevanceReference
" A proline-to-alanine change at position 1148 in exon 27 (Pro1148Ala) has been reported in probands with MFS, aortic aneurysm or Marfanoid-craniosynostosis."3.69The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? ( Francke, U; Liu, W; Schrijver, I, 1997)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Wudy, SA1
Hartmann, MF1
Draper, N1
Stewart, PM1
Arlt, W1
Schrijver, I1
Liu, W1
Francke, U1

Other Studies

2 other studies available for alanine and Marfan Syndrome, Type I

ArticleYear
A male twin infant with skull deformity and elevated neonatal 17-hydroxyprogesterone: a prismatic case of P450 oxidoreductase deficiency.
    Endocrine research, 2004, Volume: 30, Issue:4

    Topics: 17-alpha-Hydroxyprogesterone; Abnormalities, Multiple; Alanine; Amino Acid Substitution; Cytosine; D

2004
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
    Human genetics, 1997, Volume: 99, Issue:5

    Topics: Alanine; Amino Acid Sequence; Animals; Aortic Aneurysm; Asia; Base Sequence; Biological Evolution; C

1997