Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure

Gene

Volumn 507, Issue 1, 2012, Pages 68-73

  Siala, Olfa ^a   Belguith, Neila ^b   Kammoun, Hassen ^b   Kammoun, Bourane ^c   Hmida, Nedia ^b   Chabchoub, Imen ^b   Hchicha, Mongia ^b   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HEDI CHAKER HOSPITAL   (Tunisia)

^c HABIB BOURGUIBA HOSPITAL   (Tunisia)

Author keywords

Acceptor splice site; B3GALTL gene; CpG Island; Epigenetic process; MRNA fold; Peters plus syndrome

Indexed keywords

B3GALTL PROTEIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG;

ANTEVERTED NOSTRIL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; BIRTH WEIGHT; BRACHYDACTYLY; CASE REPORT; CHILD; CONGENITAL GLAUCOMA; CONSANGUINEOUS MARRIAGE; CORNEA OPACITY; CORNEA TRANSPLANTATION; CORPUS CALLOSUM AGENESIS; CPG ISLAND; EPIGENETICS; EXON; EYE EXAMINATION; FACE DYSMORPHIA; FETUS ECHOGRAPHY; GENE CONTROL; GENE LOCATION; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; INTRON; MALE; METHYLATION; MICROCEPHALY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; PETERS PLUS SYNDROME; PRIORITY JOURNAL; RNA SPLICING; RNA STRUCTURE; SCHOOL CHILD; SHORT LIMBED DWARFISM; SHORT STATURE; TUNISIA; UNDERWEIGHT;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD; CORNEA; CPG ISLANDS; DNA, RECOMBINANT; GALACTOSYLTRANSFERASES; GLUCOSYLTRANSFERASES; GROWTH DISORDERS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID CONFORMATION; RNA SPLICING; RNA, MESSENGER; TUNISIA;

EID: 84864983842     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.06.052     Document Type: Article

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