Publication

Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA, Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia American journal of human genetics72:749-58 2003
PubMed ID: 12577200

Records Return:  (5) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM05106Female12 YR816sisterNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
GM05110Male8 YR816brotherNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
GM05107Male41 YR816fatherNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
GM05105Male10 YR816probandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
GM05043Female16 YR810sisterNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3