Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia

American Journal of Human Genetics

Volumn 72, Issue 3, 2003, Pages 749-758

  Cuajungco, Math P ^a,e   Leyne, Maire ^a,e   Mull, James ^a,e   Gill, Sandra P ^a,e   Lu, Weining ^b   Zagzag, David ^c   Axelrod, Felicia B ^c   Maayan, Channa ^d   Gusella, James F ^a,e   Slaugenhaupt, Susan A ^a,e,f  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f Harvard Institute for Human Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

I KAPPA B KINASE; I KAPPA B KINASE ASSOCIATED PROTEIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BLOOD SAMPLING; CELL DENSITY; CELL LINE; CONTROLLED STUDY; DENSITOMETRY; DYSAUTONOMIA; EXON; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; GROWTH CURVE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LYMPHOBLAST; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING;

EID: 0037371609     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/368263     Document Type: Article

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