Publication

Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY, Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet68(3):753-758 2001
PubMed ID: 11179021

Records Return:  (4) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM05108Female35 YR816motherNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
GM05106Female12 YR816sisterNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
GM05107Male41 YR816fatherNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
GM05046Female51 YR810motherNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3