Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

American Journal of Human Genetics

Volumn 68, Issue 3, 2001, Pages 598-605

  Slaugenhaupt, Susan A ^a,b   Blumenfeld, Anat ^c   Gill, Sandra P ^a,b   Leyne, Maire ^a,b   Mull, James ^a,b   Cuajungco, Math P ^a,b   Liebert, Christopher B ^a,b   Chadwick, Brian ^a,b   Idelson, Maria ^c   Reznik, Luba ^c   Robbins, Christiane M ^e   Makalowska, Izabela ^f   Brownstein, Michael J ^g   Scheidereit, Claus ^h   Maayan, Channa ^d,h   Axelrod, Felicia B ⁱ   Gusella, James F ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c Clinical Biochemistry   (Israel)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^g NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^h MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

ⁱ NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ARTICLE; AUTONOMIC NEUROPATHY; DYSAUTONOMIA; ETHNIC GROUP; FAMILIAL DISEASE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN TISSUE; JEW; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SENSORY NEUROPATHY; TISSUE SPECIFICITY;

EID: 0035089807     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/318810     Document Type: Article

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