Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

Molecular Genetics and Metabolism

Volumn 90, Issue 1, 2007, Pages 93-96

  Bouchet, C ^a   Vuillaumier Barrot, S ^a,b   Gonzales, M ^c,d   Boukari, S ^a   Bizec, C Le ^a   Fallet, C ^e   Delezoide, A L ^f   Moirot, H ^g   Laquerriere, A ^g   Encha Razavi, F ^h   Durand, G ^a   Seta, N ^a  

^a BICHAT HOSPITAL   (France)

^b CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e CENTRE HOSPITALIER SAINTE ANNE   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g ROUEN UNIVERSITY HOSPITAL   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Alu insertion; POMT1; Walker Warburg syndrome

Indexed keywords

ARGININE; CYSTEINE; GENOMIC DNA; REPETITIVE DNA;

AGYRIA; ALU SEQUENCE; ARACHNOID NEUROGLIA ECTOPIA; ARTICLE; BRAIN VENTRICLE; BRAIN VENTRICLE DILATATION; CLINICAL FEATURE; CONTROLLED STUDY; CORTICAL DYSPLASIA; ECTOPIC TISSUE; EXON; FAMILY; FETUS; FETUS DISEASE; FOUNDER EFFECT; FRANCE; GENE; GENE INSERTION; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOTYPE; HETEROZYGOTE; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POMT1 GENE; PRIORITY JOURNAL; RETROPOSON; SEQUENCE ANALYSIS; WALKER WARBURG SYNDROME;

ABNORMALITIES, MULTIPLE; ALU ELEMENTS; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BRAIN; EYE ABNORMALITIES; FEMALE; FRANCE; HUMANS; MANNOSYLTRANSFERASES; MOLECULAR SEQUENCE DATA; PREGNANCY; SYNDROME;

TETRA;

EID: 33845286912     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.09.005     Document Type: Article

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