Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

American Journal of Human Genetics

Volumn 82, Issue 2, 2008, Pages 464-476

  Michalk, Anne ^a   Stricker, Sigmar ^b   Becker, Jutta ^c   Rupps, Rosemarie ^d   Pantzar, Tapio ^d   Miertus, Jan ^e   Botta, Giovanni ^f   Naretto, Valeria G ^g   Janetzki, Catrin ^a   Yaqoob, Nausheen ^h   Ott, Claus Eric ^a   Seelow, Dominik ^a   Wieczorek, Dagmar ⁱ   Fiebig, Britta ^j   Wirth, Brunhilde ^c   Hoopmann, Markus ^c   Walther, Marisa ^k   Körber, Friederike ^c   Blankenburg, Markus ^l   Mundlos, Stefan ^a,b   Heller, Raoul ^c   Hoffmann, Katrin ^a,b   more..

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d BC CHILDREN S HOSPITAL   (Canada)

^e ST ELIZABETH CANCER INSTITUTE   (Slovakia)

^f S ANNA HOSPITAL   (Italy)

^g MOLINETTE HOSPITAL   (Italy)

^h KING ABDUL AZIZ SPECIALIST HOSPITAL   (Saudi Arabia)

ⁱ UNIVERSITY OF DUISBURG ESSEN   (Germany)

^j UNIVERSITY OF REGENSBURG   (Germany)

^k Medical Center for Rheumatology Berlin Buch   (Germany)

^l UNIVERSITY OF WITTEN HERDECKE   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT; CHRNA1 PROTEIN, HUMAN; CHRND PROTEIN, HUMAN; NICOTINIC RECEPTOR; UNCLASSIFIED DRUG;

ABORTION; AKINESIA; ARTICLE; CHRNA1 GENE; CHRNB1 GENE; CHRND GENE; CHRNG GENE; CONGENITAL HEART MALFORMATION; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; CYSTIC LYMPHANGIOMA; ENVIRONMENTAL FACTOR; ESCOBAR SYNDROME; FETAL AKINESIA DEFORMATION SEQUENCE; FETUS MALFORMATION; GENE; GENE DISRUPTION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HEREDITY; HOMOZYGOSITY; HUMAN; LETHAL MULTIPLE PTERYGIUM SYNDROME; LETHALITY; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RAPSN GENE; RECEPTOR GENE; SEQUENCE ANALYSIS; SYNAPSE; ANIMAL; BIOLOGICAL MODEL; FETUS DISEASE; GENETICS; IN SITU HYBRIDIZATION; METABOLISM; MOUSE; MULTIPLE MALFORMATION SYNDROME; MUTATION; PEDIGREE; PRENATAL DEVELOPMENT; RECESSIVE GENE; SKELETAL MUSCLE;

ABNORMALITIES, MULTIPLE; ANIMALS; FETAL DISEASES; GENES, RECESSIVE; HUMANS; IN SITU HYBRIDIZATION; MICE; MODELS, BIOLOGICAL; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; RECEPTORS, CHOLINERGIC; RECEPTORS, NICOTINIC;

EID: 40749093330     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.11.006     Document Type: Article

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