Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

American Journal of Human Genetics

Volumn 84, Issue 4, 2009, Pages 542-549

  Merrill, Amy E ^a,b   Merriman, Barry ^b   Farrington Rock, Claire ^a   Camacho, Natalia ^b   Sebald, Eiman T ^a   Funari, Vincent A ^a,b   Schibler, Matthew J ^b   Firestein, Marc H ^b   Cohn, Zachary A ^a   Priore, Mary Ann ^a   Thompson, Alicia K ^c   Rimoin, David L ^a,b   Nelson, Stanley F ^b   Cohn, Daniel H ^a,b   Krakow, Deborah ^a,b  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CARRIER PROTEIN; CYSTEINE; DYNEIN ADENOSINE TRIPHOSPHATASE; RETROGRADE TRANSPORT PROTEIN DYNC2H1; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CARTILAGE CELL; CELL CULTURE; CELL STRUCTURE; CHONDRODYSPLASIA; CILIA DISORDER; CONSANGUINITY; DYNC2H1 GENE; EUKARYOTIC FLAGELLUM; EXON; FEMALE; FETUS; GENE; GENE MAPPING; GENETIC DISORDER; GENOME; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; NULL ALLELE; PRIORITY JOURNAL; UNINDEXED SEQUENCE;

BASE SEQUENCE; CELLS, CULTURED; CHONDROCYTES; CILIA; CODON, NONSENSE; CONSANGUINITY; DNA PRIMERS; DYNEIN ATPASE; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; PREGNANCY; SHORT RIB-POLYDACTYLY SYNDROME;

EID: 63749103524     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.03.015     Document Type: Article

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