CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.
Maslen
Cheryl L
CL
Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland 97239, USA. maslenc@ohsu.edu
Babcock
Darcie
D
Robinson
Susan W
SW
Bean
Lora J H
LJ
Dooley
Kenneth J
KJ
Willour
Virginia L
VL
Sherman
Stephanie L
SL
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D015815:Cell Adhesion Molecules / Q000737:chemistry / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics*; D006343:Heart Septal Defects / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D008969:Molecular Sequence Data; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D017386:Sequence Homology, Amino Acid
C465506:CRELD1 protein, human; D015815:Cell Adhesion Molecules; D016326:Extracellular Matrix Proteins