Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy

Human Molecular Genetics

Volumn 18, Issue 7, 2009, Pages 1200-1208

  Landsverk, Megan L ^a   Ruzzo, Elizabeth K ^a   Mefford, Heather C ^a   Buysse, Karen ^a,l   Buchan, Jillian G ^a   Eichler, Evan E ^a,c   Petty, Elizabeth M ^e   Peterson, Esther A ^e   Knutzen, Dana M ^a   Barnett, Karen ^a   Farlow, Martin R ^f   Caress, Judy ^f   Parry, Gareth J ^g   Quan, Dianna ^h   Gardner, Kathy L ⁱ   Hong, Ming ^j   Simmons, Zachary ^k   Bird, Thomas D ^a,d   Chance, Phillip F ^a,b   Hannibal, Mark C ^a,b,m  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^e UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^f INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF MINNESOTA   (United States)

^h UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^j Group Health Bellevue Medical Center   (United States)

^k PENN STATE COLLEGE OF MEDICINE   (United States)

^l GHENT UNIVERSITY HOSPITAL   (Belgium)

^m HSB RR247 ^*  (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SEPTIN; SEPTIN 9; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; CONTROLLED STUDY; EXON; FOUNDER EFFECT; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOBLOTTING; MOLECULAR GENETICS; MOLECULAR WEIGHT; MUTATIONAL ANALYSIS; NORTH AMERICA; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; TANDEM REPEAT;

BASE PAIRING; BASE SEQUENCE; BRACHIAL PLEXUS NEURITIS; CHROMOSOME SEGREGATION; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; FEMALE; FOUNDER EFFECT; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GTP PHOSPHOHYDROLASES; HAPLOTYPES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NORTH AMERICA; PEDIGREE; READING FRAMES; RNA, MESSENGER;

EID: 63149084040     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp014     Document Type: Article

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