Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

American Journal of Human Genetics

Volumn 73, Issue 4, 2003, Pages 957-966

  Dowling, Oonagh ^a   Difeo, Analisa ^a   Ramirez, Maria C ^a   Tukel, Turgut ^a,b,c   Narla, Goutham ^a   Bonafe, Luisa ^d   Kayserili, Hulya ^c   Yuksel Apak, Memnune ^c   Paller, Amy S ^e   Norton, Karen ^a   Teebi, Ahmad S ^f   Grum Tokars, Valerie ^g   Martin, Gail S ^h   Davis, George E ^h   Glucksman, Marc J ^g   Martignetti, John A ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b ISTANBUL UNIVERSITY   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

^d LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^e NORTHWESTERN UNIVERSITY   (United States)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

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

^h TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTHRAX TOXIN; CAPILLARY MORPHOGENESIS PROTEIN 2; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHROMOSOME 21; CHROMOSOME 4Q; ENDOTHELIUM CELL; FIBROMATOSIS; GENE FUNCTION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; HUMAN; HYALINE DEGENERATION; MISSENSE MUTATION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; STOP CODON; TRANSLATION INITIATION; UPREGULATION;

ANTHRAX; INSERTION SEQUENCES;

EID: 0142122899     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/378781     Document Type: Article

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