Primate genome gain and loss: A bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts

American Journal of Human Genetics

Volumn 90, Issue 4, 2012, Pages 614-627

  Camacho Vanegas, Olga ^a   Camacho, Sandra Catalina ^a   Till, Jacob ^a   Miranda Lorenzo, Irene ^a   Terzo, Esteban ^a   Ramirez, Maria Celeste ^a   Schramm, Vern ^b   Cordovano, Grace ^b   Watts, Giles ^c   Mehta, Sarju ^c   Kimonis, Virginia ^c   Hoch, Benjamin ^a   Philibert, Keith D ^d   Raabe, Carsten A ^e   Bishop, David F ^a   Glucksman, Marc J ^d   Martignetti, John A ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d ROSALIND FRANKLIN UNIVERSITY OF MEDICINE AND SCIENCE   (United States)

^e UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

5' METHYLTHIOADENOSINE PHOSPHORYLASE; ADENINE; METHIONINE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE CANCER; BONE DYSPLASIA; CHROMOSOME 9P; DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; POLYAMINE METABOLISM; PRIORITY JOURNAL;

ALTERNATIVE SPLICING; ANIMALS; BASE SEQUENCE; BIOLOGICAL EVOLUTION; BONE DISEASES, DEVELOPMENTAL; BONE NEOPLASMS; CHROMOSOMES, HUMAN, PAIR 9; EXONS; GENOME; HISTIOCYTOMA, BENIGN FIBROUS; HUMANS; ISOENZYMES; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY; PRIMATES; PURINE-NUCLEOSIDE PHOSPHORYLASE; RETROVIRIDAE; SARCOMA;

PRIMATES;

EID: 84859517357     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.02.024     Document Type: Article

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