Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of Jagged 1

American Journal of Human Genetics

Volumn 71, Issue 1, 2002, Pages 180-186

  Le Caignec, C ^a,c   Lefevre, M ^c   Schott, J J ^b   Chaventre, A ^a   Gayet, M ^c   Calais, C ^c   Moisan, J P ^a,c  

^a UNIVERSITÉ DE NANTES   (France)

^b INSERM   (France)

^c NANTES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALAGILLE SYNDROME; AMINO ACID SUBSTITUTION; ANTERIOR EYE CHAMBER DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; FALLOT TETRALOGY; FAMILIAL DISEASE; FEMALE; GENE; HEARING IMPAIRMENT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; JAGGED1 GENE; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SYNDROME; VESTIBULAR DISORDER;

EID: 0036301840     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/341327     Document Type: Article

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