Genotype-phenotype correlations for infants and children with ABCA3 deficiency

Keyphrases

• ATP-binding Cassette Transporter A1 (ABCA1) 100%
• Genotype-phenotype Correlation 100%
• Compound Heterozygous mutation 25%
• Insertion-deletion 25%
• Missense 25%
• Respiratory Failure 12%
• At Birth 12%
• Protein Function 12%
• Counseling 12%
• Poor Outcome 12%
• Genetic Studies 12%
• Genotype 12%
• Frameshift 12%
• Lung Transplantation 12%
• Splice Site 12%
• Lung Disease 12%
• Frameshift mutation 12%
• Nonsense 12%
• Nonsense mutation 12%
• Splicing mutation 12%
• Clinical Decision-making 12%
• Neonatal Respiratory Distress Syndrome 12%
• Johns Hopkins University 12%
• Childhood Interstitial Lung Disease 12%
• Washington 12%
• Genotype P 12%
• Neonatal Presentation 12%
• Recessive mutation 12%
• ABCA3 12%

Biochemistry, Genetics and Molecular Biology

• Genotype Phenotype Correlation 100%
• ATP-binding Cassette Transporter 100%
• ABC Transporter 100%
• Missense 25%
• Indel 25%
• Genetics 12%
• Protein Function 12%
• Frameshift Mutation 12%
• Nonsense Mutation 12%
• Splice Site Mutation 12%
• Clinical Decision Making 12%
• ABCA3 12%

Medicine and Dentistry

• Genotype Phenotype Correlation 100%
• ABC Transporter 100%
• Respiratory Failure 25%
• Indel Mutation 25%
• Lung Transplantation 12%
• Silo-Filler's Disease 12%
• Nonsense Mutation 12%
• Clinical Decision Making 12%
• Interstitial Lung Disease 12%
• Frameshift Mutation 12%
• Protein Function 12%