Page last updated: 2024-08-17

aspartic acid and Marfan Syndrome, Type I

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

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	1 (50.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	1 (50.00)	2.80

Authors

Authors	Studies
Baptista, J; Eason, J; Hamilton, M; Johnson, K; Jones, G; Kanani, F; Osio, D; Suri, M	1
Babcock, D; Francke, U; Gasner, C; Maslen, C	1

Other Studies

2 other study(ies) available for aspartic acid and Marfan Syndrome, Type I

Article	Year
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome. European journal of medical genetics, 2022, Volume: 65, Issue:10 Topics: Aspartic Acid; Calcium-Binding Proteins; Child; Craniofacial Abnormalities; Ectopia Lentis; Fibrillin-1; Humans; Iris; Marfan Syndrome; Membrane Proteins; Mixed Function Oxygenases; Muscle Proteins; Mutation; Transcription Factors	2022
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. Human genetics, 1998, Volume: 103, Issue:1 Topics: Aged; Amino Acid Sequence; Amino Acid Substitution; Aspartic Acid; Epidermal Growth Factor; Exons; Female; Fibrillin-2; Fibrillins; Histidine; Humans; Male; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sequence Alignment; Sequence Deletion; Sequence Homology, Amino Acid; Transcription, Genetic	1998

Article

Year

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

European journal of medical genetics, 2022, Volume: 65, Issue:10

Topics: Aspartic Acid; Calcium-Binding Proteins; Child; Craniofacial Abnormalities; Ectopia Lentis; Fibrillin-1; Humans; Iris; Marfan Syndrome; Membrane Proteins; Mixed Function Oxygenases; Muscle Proteins; Mutation; Transcription Factors

2022

A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.

Human genetics, 1998, Volume: 103, Issue:1

Topics: Aged; Amino Acid Sequence; Amino Acid Substitution; Aspartic Acid; Epidermal Growth Factor; Exons; Female; Fibrillin-2; Fibrillins; Histidine; Humans; Male; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sequence Alignment; Sequence Deletion; Sequence Homology, Amino Acid; Transcription, Genetic

1998