Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene

PLoS ONE

Volumn 7, Issue 1, 2012, Pages

  Garin, Intza ^a,b   de Nanclares, Guiomar Perez ^a,b   Gastaldo, Elena ^c   Harries, Lorna W ^d   Rubio Cabezas, Oscar ^e,f   Castaño, Luis ^a,b  

^a UNIVERSITAT POLITÈCNICA DE VALÈNCIA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL DE LA RIBERA   (Spain)

^d PENINSULA MEDICAL SCHOOL   (United Kingdom)

^e HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^f INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; INSULIN; MESSENGER RNA; NUCLEOTIDE; PROINSULIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DIABETES MELLITUS; EXON; FAMILY HISTORY; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INFANT; INS GENE; INTRON; NEWBORN DISEASE; OUTCOME ASSESSMENT; PATHOGENICITY; PERMANENT NEONATAL DIABETES MELLITUS; RNA SPLICING; CHEMICAL STRUCTURE; CHEMISTRY; CHILD; GENETICS; HETEROZYGOTE; MALE; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PREGNANCY; PROTEIN TERTIARY STRUCTURE;

BASE SEQUENCE; CHILD; DIABETES MELLITUS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INSULIN; INTRONS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PREGNANCY; PROINSULIN; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES; RNA, MESSENGER;

EID: 84855393070     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0029205     Document Type: Article

References (20)

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