A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2

American Journal of Human Genetics

Volumn 81, Issue 4, 2007, Pages 673-683

  Amr, Sami ^a   Heisey, Cindy ^a   Zhang, Min ^a   Xia, Xia Juan ^a   Shows, Kathryn H ^a   Ajlouni, Kamel ^b,c   Pandya, Arti ^a   Satin, Leslie S ^a   El Shanti, Hatem ^b,d   Shiang, Rita ^a,e  

^a VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^b National Center for Diabetes Endocrinology and Genetics Jordan   (Jordan)

^c JORDAN UNIVERSITY HOSPITAL   (Jordan)

^d UNIVERSITY OF IOWA CHILDREN S HOSPITAL   (United States)

^e NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; ENDOPLASMIC RETICULUM INTERMEMBRANE SMALL PROTEIN; MEMBRANE PROTEIN; MESSENGER RNA; NUCLEIC ACID BINDING PROTEIN; THAPSIGARGIN; UNCLASSIFIED DRUG; WOLFRAMIN; ZINC FINGER PROTEIN;

ANIMAL CELL; ARTICLE; CALCIUM CELL LEVEL; CALCIUM HOMEOSTASIS; CONTROLLED STUDY; EMBRYO; ENDOPLASMIC RETICULUM; EXON; GENE IDENTIFICATION; GENE LOCATION; GENETIC SCREENING; HEARING LOSS; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; MISSENSE MUTATION; MOUSE; NONHUMAN; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; RECESSIVE GENE; RNA SPLICING; STOP CODON; WOLFRAM SYNDROME; WOLFRAM SYNDROME 1 GENE; WOLFRAM SYNDROME 2 GENE;

EID: 35348939526     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/520961     Document Type: Article

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