Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

American Journal of Human Genetics

Volumn 96, Issue 6, 2015, Pages 955-961

  Ravenscroft, Gianina ^a   Nolent, Flora ^b,c   Rajagopalan, Sulekha ^d   Meireles, Ana M ^e   Paavola, Kevin J ^e   Gaillard, Dominique ^f   Alanio, Elisabeth ^g   Buckland, Michael ^h,i   Arbuckle, Susan ^j   Krivanek, Michael ^j   Maluenda, Jérome ^b,c   Pannell, Stephen ^a   Gooding, Rebecca ^k   Ong, Royston W ^a   Allcock, Richard J ^a   Carvalho, Ellaine D F ^l,m   Carvalho, Maria D F ^l,m,n   Kok, Fernando ^o   Talbot, William S ^e   Melki, Judith ^b,c   Laing, Nigel G ^a   more..

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b Bicetre Hospital   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d LIVERPOOL HOSPITAL   (Australia)

^e STANFORD UNIVERSITY   (United States)

^f HÔPITAL MAISON BLANCHE   (France)

^g REIMS UNIVERSITY HOSPITAL   (France)

^h UNIVERSITY OF SYDNEY   (Australia)

ⁱ ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^j CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^k PATHWEST LABORATORY MEDICINE   (Australia)

^l Fundação Oswaldo Cruz   (Brazil)

^m Genpharma Consultoria Farmaceutica e Genetica   (Brazil)

ⁿ STATE UNIVERSITY OF CEARÁ   (Brazil)

^o Mendelics Genomic Analysis   (Brazil)

more..

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR; G PROTEIN COUPLED RECEPTOR 126; MYELIN BASIC PROTEIN; UNCLASSIFIED DRUG; GPR126 PROTEIN, HUMAN;

ARTHROGRYPOSIS; ARTICLE; AUTOPSY; AXON; CASE REPORT; CONSANGUINEOUS MARRIAGE; EXOME; FAMILY; FEMALE; FETUS; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; HUMAN CELL; HUMAN TISSUE; MISSENSE MUTATION; MYELINATION; NEWBORN; NONSENSE MUTATION; PERIPHERAL NERVE; PHENOTYPE; PRIORITY JOURNAL; AMINO ACID SEQUENCE; DNA SEQUENCE; GENETICS; IMMUNOHISTOCHEMISTRY; MOLECULAR GENETICS; MYELINATED NERVE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; ARTHROGRYPOSIS; BASE SEQUENCE; EXOME; HUMANS; IMMUNOHISTOCHEMISTRY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE FIBERS, MYELINATED; PEDIGREE; RECEPTORS, G-PROTEIN-COUPLED; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 84929649670     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.04.014     Document Type: Article

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