A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Nature Genetics

Volumn 26, Issue 1, 2000, Pages 56-60

  Bitner Glindzicz, Maria ^a   Lindley, Keith J ^a   Rutland, Paul ^a   Blaydon, Diana ^a   Smith, Virpi V ^a   Milla, Peter J ^a   Hussain, Khalid ^a   Furth Lavi, Judith ^b   Cosgrove, Karen E ^c   Shepherd, Ruth M ^c   Barnes, Philippa D ^c   O'Brien, Rachel E ^c   Farndon, Peter A ^d   Sowden, Jane ^e   Liu, Xue Zhong ^f   Scanlan, Matthew J ^g   Malcolm, Sue ^a   Dunne, Mark J ^c   Aynsley Green, Albert ^a   Glaser, Benjamin ^b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b HEBREW UNIVERSITY   (Israel)

^c UNIVERSITY OF SHEFFIELD   (United Kingdom)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g LUDWIG INSTITUTE FOR CANCER RESEARCH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; ENTEROPATHY; GENE DELETION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; HYPERINSULINISM; IMMUNOHISTOCHEMISTRY; INFANCY; INFANT; KIDNEY TUBULE DISORDER; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; USHER SYNDROME; VESTIBULAR DISORDER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; BASE SEQUENCE; CARRIER PROTEINS; CELL LINE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DUODENUM; EXONS; EYE; FAMILY HEALTH; FEMALE; GENE DELETION; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; HYPERINSULINISM; IMMUNOHISTOCHEMISTRY; INFANT; INTRONS; ION CHANNELS; KIDNEY TUBULES; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; PANCREAS; PEDIGREE; RETINA; RETINAL DEGENERATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE TAGGED SITES;

EID: 0033822063     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79178     Document Type: Article

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