Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

American Journal of Human Genetics

Volumn 82, Issue 1, 2008, Pages 222-227

  Vogt, Julie ^a,b   Harrison, Benjamin J ^a   Spearman, Hayley ^c   Cossins, Judy ^c   Vermeer, Sascha ^d   ten Cate, Lambert Naudin ^e   Morgan, Neil V ^a   Beeson, David ^c   Maher, Eamonn R ^a,b  

^a Department of Medical and Molecular Genetics   (United Kingdom)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Laboratorium Pathologie Oost Nederland   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; CHRNA1 PROTEIN, HUMAN; CHRNB1 PROTEIN, HUMAN; CHRND PROTEIN, HUMAN; MUSCLE PROTEIN; NICOTINIC RECEPTOR; PERIPHERAL MEMBRANE PROTEIN 43K; UNCLASSIFIED DRUG;

AKINESIA; ARTICLE; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HOMOLOGOUS RECOMBINATION; HUMAN; HYPOTHESIS; PHENOTYPE; PRIORITY JOURNAL; PTERYGIUM; WEBBED NECK; AMINO ACID SEQUENCE; ARTHROGRYPOSIS; CHEMISTRY; CHILD; FETUS DISEASE; GENETICS; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ARTHROGRYPOSIS; BASE SEQUENCE; CHILD; FETAL DISEASES; HUMANS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; RECEPTORS, CHOLINERGIC; RECEPTORS, NICOTINIC; SYNDROME;

EID: 38749153268     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.09.016     Document Type: Article

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