Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system

eLife

Volumn 6, Issue , 2017, Pages

  Belbin, Gillian Morven ^a   Odgis, Jacqueline ^a   Sorokin, Elena P ^b   Yee, Muh Ching ^c   Kohli, Sumita ^a   Glicksberg, Benjamin S ^a   Gignoux, Christopher R ^b   Wojcik, Genevieve L ^b   Van Vleck, Tielman ^a   Jeff, Janina M ^a   Linderman, Michael ^a,j   Schurmann, Claudia ^a,j   Ruderfer, Douglas ^a,d,k   Cai, Xiaoqiang ^a   Merkelson, Amanda ^a   Justice, Anne E ^e   Young, Kristin L ^e   Graff, Misa ^e   North, Kari E ^e   Peters, Ulrike ^f,g   James, Regina ^h   Hindorff, Lucia ⁱ   Kornreich, Ruth ^a   Edelmann, Lisa ^a   Gottesman, Omri ^a,l   Stahl, Eli E A ^a,d   Cho, Judy H ^a   Loos, Ruth J F ^a   Bottinger, Erwin P ^a,m   Nadkarni, Girish N ^a   Abul Husn, Noura S ^a,l   Kenny, Eimear E ^a   more..

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c GEOPHYSICAL LABORATORY   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e University of North Carolina at Chapel Hill   (United States)

^f USA   (United States)

^g UNIVERSITY OF WASHINGTON   (United States)

^h NATIONAL INSTITUTE ON MINORITY HEALTH AND HEALTH DISPARITIES   (United States)

ⁱ NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^j MIDDLEBURY COLLEGE   (United States)

^k VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^l Regeneron Pharmaceuticals   (United States)

^m BERLIN INSTITUTE OF HEALTH   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANCESTRY GROUP; ARTERY STEAL SYNDROME; ARTICLE; BIOBANK; CHILD; COHORT ANALYSIS; COLLAGEN DISEASE; ELECTRONIC HEALTH RECORD; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCULOSKELETAL DISEASE; PEDIGREE; PEDIGREE ANALYSIS; POPULATION GENETICS; PUERTO RICAN; SHORT STATURE; ADOLESCENT; AGED; ETHNOLOGY; GENETICS; GENOTYPE; HETEROZYGOTE; HISPANIC; HOMOZYGOTE; MIDDLE AGED; MOLECULAR EPIDEMIOLOGY; MULTIGENE FAMILY; NEW YORK; WHOLE GENOME SEQUENCING; YOUNG ADULT;

COL27A1 PROTEIN, HUMAN; FIBRILLAR COLLAGEN;

ADOLESCENT; ADULT; AGED; CHILD; COLLAGEN DISEASES; FEMALE; FIBRILLAR COLLAGENS; GENOTYPE; HETEROZYGOTE; HISPANIC AMERICANS; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR EPIDEMIOLOGY; MULTIGENE FAMILY; MUSCULOSKELETAL DISEASES; NEW YORK CITY; PEDIGREE; WHOLE GENOME SEQUENCING; YOUNG ADULT;

EID: 85029790204     PISSN: None     EISSN: 2050084X     Source Type: Journal    
DOI: 10.7554/eLife.25060     Document Type: Article

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