Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Nature Genetics

Volumn 15, Issue 1, 1997, Pages 30-35

  Basson, Craig T ^a   Bachinsky, David R ^b   Lin, Robert C ^b   Levi, Tatjana ^b   Elkins, Jacob A ^b   Soults, Johann ^b   Grayzel, David ^b   Kroumpouzou, Elena ^b   Traill, Thomas A ^c   Leblanc Straceski, Janine ^d,e   Renault, Beatrice ^d   Kucherlapati, Raju ^d   Seidman, J G ^b   Seidman, Christine E ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c JOHNS HOPKINS HOSPITAL   (United States)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^e MERRIMACK COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; DNA; T BOX TRANSCRIPTION FACTOR; T-BOX TRANSCRIPTION FACTOR 5; TRANSCRIPTION FACTOR TBX5;

AMINO ACID SEQUENCE; CHROMOSOME 12P; DNA BINDING; DNA SEQUENCE; GENE LOCUS; GENE MAPPING; GENE MUTATION; HEART DEVELOPMENT; HEART SEPTUM DEFECT; HOLT ORAM SYNDROME; LIMB DEVELOPMENT; LIMB MALFORMATION; MOLECULAR CLONING; NONSENSE MUTATION; PRIORITY JOURNAL; REVIEW; ANIMAL; ARM; ARTICLE; CHROMOSOME 12; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; GENETICS; HUMAN; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PRENATAL DEVELOPMENT; SEQUENCE HOMOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; ARM; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 12; CLONING, MOLECULAR; DNA; DNA MUTATIONAL ANALYSIS; HEART DEFECTS, CONGENITAL; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; T-BOX DOMAIN PROTEINS; TRANSCRIPTION FACTORS;

EID: 0030636780     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0197-30     Document Type: Review

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