Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes

Journal of Molecular Medicine

Volumn 78, Issue 12, 2001, Pages 721-724

  Mallolas, Judith ^a   Vilaseca, M Antònia ^b   Pavia, Carlos ^b   Lambruschini, Nilo ^a   Cambra, Francisco José ^a   Campistol, Jaume ^a   Gómez, David ^a   Carrió, Ana ^a,c   Estivill, Xavier ^d   Milà, Montserrat ^a,c  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

ASCL1; Deletion; IGF1; PAH; Phenylketonuria; TRA1

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 12; ELECTROOCULOGRAPHY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HUMAN; MULTIGENE FAMILY; PHENYLKETONURIA; PIGMENT EPITHELIUM; POINT MUTATION;

EID: 17744393216     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001090000160     Document Type: Article

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