Search

Your search keyword '"Mull, James"' showing total 3 results
Start Over Author "Mull, James" Journal american journal of human genetics
3 results on '"Mull, James"'

2. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

Author

Blumenfeld, Anat, Slaugenhaupt, Susan A., Liebert, Christopher B., Temper, Violeta, Maayan, Channa, Gill, Sandra, Lucente, Diane E., Idelson, Maria, MacCormack, Kathy, Monahan, Mary Anne, Mull, James, Leyne, Maire, Mendillo, Marc, Schiripo, Taryn, Mishori, Esther, Breakefield, Xandra, Axelrod, Felicia B., and Gusella, James F.

Subjects
Dysautonomia -- Genetic aspects, Nervous system diseases -- Genetic aspects, Genetic disorders -- Research, Biological sciences
Abstract

Findings have enabled researchers to develop accurate genetic testing for familial dysautonomia in both families who exhibit the disease and carriers of the disease. Genetic mapping has provided a narrower location of the defective gene, confirmed by haplotype analysis. This process revealed a prominent haplotype found in 435 of 441 familial dysautonomia chromosomes.

Published
1999

3. Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

Author

Slaugenhaupt, Susan A., Blumenfeld, Anat, Gill, Sandra P., Leyne, Maire, Mull, James, Cuajungco, Math P., Liebert, Christopher B., Chadwick, Brian, Idelson, Maria, Reznik, Luba, Robbins, Christiane M., Makalowska, Izabela, Brownstein, Michael J., Krappmann, Daniel, Scheidereit, Claus, Maayan, Channa, Axelrod, Felicia B., and Gusella, James F.

Subjects
Dysautonomia -- Genetic aspects, Ashkenazim -- Diseases, Gene mutations -- Research, Human genetics -- Research, Biological sciences
Published
2001

Catalog

Books, media, physical & digital resources
See catalog results