Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II

Gene

Volumn 537, Issue 1, 2014, Pages 79-84

  Rimoldi, Valeria ^a   Straniero, Letizia ^a   Asselta, Rosanna ^a   Mauri, Lucia ^b   Manfredini, Emanuela ^b   Penco, Silvana ^b   Gesu, Giovanni P ^b   Del Longo, Alessandra ^b   Piozzi, Elena ^b   Soldà, Giulia ^a   Primignani, Paola ^b  

^a UNIVERSITY OF MILAN   (Italy)

^b OSPEDALE NIGUARDA CA GRANDA   (Italy)

Author keywords

In vitro analysis; OCA2; Oculocutaneous albinism; Splicing mutations

Indexed keywords

NUCLEOTIDE; POLYPEPTIDE;

ALLELE; ARTICLE; CASE REPORT; CHILD; CONSENSUS SEQUENCE; CONTROLLED STUDY; DONOR SITE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; INTRON; MALE; MISSENSE MUTATION; OCA2 GENE; OCULOCUTANEOUS ALBINISM; OCULOCUTANEOUS ALBINISM TYPE II; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING;

EARS, NOSE AND THROAT; ECD; ELECTRORETINOGRAM; ENT; ERG; EXTRA-CELLULAR DOMAIN; IN VITRO ANALYSIS; INTERVENING SEQUENCES; IVS; MESSENGER RNA; MLPA; MRNA; MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION; OA; OCA; OCA2; OCT; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; OPTICAL COHERENCE TOMOGRAPHY; PCR; POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION PCR; RT-PCR; SPLICING MUTATIONS; TMD; TRANS-MEMBRANE DOMAIN; VEP; VISUAL EVOKED POTENTIAL;

ALBINISM, OCULOCUTANEOUS; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; RNA SPLICE SITES; RNA SPLICING; SIBLINGS;

EID: 84892839018     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.11.102     Document Type: Article

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