Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

Robinson, Susan W; Morris, Cynthia D; Goldmuntz, Elizabeth; Reller, Mark D; Jones, Melanie A; Steiner, Robert D; Maslen, Cheryl L

Robinson, Susan W; Morris, Cynthia D; Goldmuntz, Elizabeth; Reller, Mark D; Jones, Melanie A; Steiner, Robert D; Maslen, Cheryl L.

Affiliation

Robinson SW; Division of Endocrinology, Department of Medicine, Oregon Health & Science University, Portland, OR 97239, USA.

Am J Hum Genet ; 72(4): 1047-52, 2003 Apr.

Article in En | MEDLINE | ID: mdl-12632326

Subject(s)

Cell Adhesion Molecules/genetics; Chromosomes, Human, Pair 3; Extracellular Matrix Proteins/genetics; Heart Septal Defects, Atrial/genetics; Heart Septal Defects, Ventricular/genetics; Amino Acid Sequence; Animals; Cattle; Cell Adhesion Molecules/chemistry; Chromosome Mapping; Chromosomes, Human, Pair 21/genetics; Chromosomes, Human, Pair 3/genetics; Down Syndrome/genetics; Epidermal Growth Factor/genetics; Exons/genetics; Extracellular Matrix Proteins/chemistry; Heterozygote; Humans; Mice; Models, Molecular; Molecular Sequence Data; Protein Conformation; Sequence Alignment; Sequence Homology, Amino Acid

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 3 / Cell Adhesion Molecules / Extracellular Matrix Proteins / Heart Septal Defects, Atrial / Heart Septal Defects, Ventricular Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Am J Hum Genet Year: 2003 Document type: Article Affiliation country: United States

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