Identification of the first non-Jewish mutation in Familial Dysautonomia

American Journal of Medical Genetics

Volumn 118 A, Issue 4, 2003, Pages 305-308

  Leyne, Maire ^a,b   Mull, James ^a,b   Gill, Sandra P ^a,b   Cuajungco, Math P ^a,b   Oddoux, Carole ^c   Blumenfeld, Anat ^d   Maayan, Channa ^d   Gusella, James F ^a,b   Axelrod, Felicia B ^e   Slaugenhaupt, Susan A ^a,b,f  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f HIM Building ^*  (United States)

Author keywords

Ashkenazi Jewish mutation; Familial Dysautonomia; IKBKAP; Non Jewish Familial Dysautonomia

Indexed keywords

LEUCINE; MESSENGER RNA; PROLINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; DIAGNOSTIC TEST; DNA SPLICING; DYSAUTONOMIA; ETHNOLOGY; EXON; GENE MUTATION; HETEROZYGOTE; HUMAN; JEW; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0041329911     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20052     Document Type: Article

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