X-linked infantile spinal muscular atrophy: Clinical definition and molecular mapping

Genetics in Medicine

Volumn 9, Issue 1, 2007, Pages 52-60

  Dressman, Devin ^a,b   Ahearn, Mary Ellen ^c   Yariz, Kemal O ^c   Basterrecha, Hugo ^c   Martínez, Francisco ^d   Palau, Francesc ^e   Barmada, M Michael ^f   Clark, Robin Dawn ^g   Meindl, Alfons ^h   Wirth, Brunhilde ⁱ   Hoffman, Eric P ^a,b   Baumbach Reardon, Lisa ^c  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d HOSPITAL UNIVERSITARIO LA FE   (Spain)

^e INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^f UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^g LOMA LINDA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h TECHNICAL UNIVERSITY OF MUNICH   (Germany)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Arthrogryposis; Hypotonia; Linkage analysis; Spinal muscular atrophy; X linked

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; COMPUTER PROGRAM; FEMALE; GENETIC LINKAGE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; SINGLE NUCLEOTIDE POLYMORPHISM; WERDNIG HOFFMANN DISEASE; X CHROMOSOME LINKED DISORDER;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; DNA; FAMILY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; PEDIGREE; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 33846260694     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31802d8353     Document Type: Article

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