Mutations in ECEL1 cause distal arthrogryposis type 5D

American Journal of Human Genetics

Volumn 92, Issue 1, 2013, Pages 150-156

  McMillin, Margaret J ^a,b   Below, Jennifer E ^c   Shively, Kathryn M ^a   Beck, Anita E ^a,b   Gildersleeve, Heidi I ^a   Pinner, Jason ^d   Gogola, Gloria R ^e   Hecht, Jacqueline T ^f   Grange, Dorothy K ^g   Harris, David J ^h   Earl, Dawn L ^b   Jagadeesh, Sujatha ⁱ   Mehta, Sarju G ^j   Robertson, Stephen P ^k   Swanson, James M ^l   Faustman, Elaine M ^c   Mefford, Heather C ^a,b   Shendure, Jay ^c   Nickerson, Deborah A ^c   Bamshad, Michael J ^a,b,c  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^e Shriners Hospitals for Children Houston   (United States)

^f UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^g WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h BOSTON CHILDREN S HOSPITAL   (United States)

ⁱ Mediscan   (India)

^j ADDENBROOKE S HOSPITAL   (United Kingdom)

^k UNIVERSITY OF OTAGO   (New Zealand)

^l UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN CONVERTING ENZYME; ENDOTHELIN CONVERTING ENZYME LIKE 1; PROTEINASE; UNCLASSIFIED DRUG;

ARTHROGRYPOSIS; ARTICLE; CONSANGUINITY; DISTAL ARTHROGRYPOSIS TYPE 5D; ECEL1 GENE; FEMALE; GENE; GENE MUTATION; HAPLOTYPE MAP; HUMAN; LINKAGE ANALYSIS; MALE; MOTONEURON; NEUROMUSCULAR SYNAPSE; NUCLEOTIDE SEQUENCE; PERIPHERAL NERVE; PRIORITY JOURNAL; PROTEIN EXPRESSION; UNIPARENTAL DISOMY;

ARTHROGRYPOSIS; CONSANGUINITY; FEMALE; GENETIC LINKAGE; HUMANS; MALE; METALLOENDOPEPTIDASES; MUTATION; SEQUENCE ANALYSIS, DNA;

MUS;

EID: 84872321947     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.11.014     Document Type: Article

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