Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy

American Journal of Medical Genetics

Volumn 92, Issue 3, 2000, Pages 184-190

  Saito, Kayoko ^a   Osawa, Makiko ^a   Wang, Zhi Ping ^a   Ikeya, Kiyoko ^a   Fukuyama, Yukio ^a   Kondo Iida, Eri ^a,b   Toda, Tatsushi ^b   Ohashi, Hirofumi ^c   Kurosawa, Kenji ^d   Wakai, Shuji ^e   Kaneko, Ken Ichiro ^f  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^d Tokyo Metropolitan Kita Medical and Rehabilitation Center   (Japan)

^e SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f JUNTENDO UNIVERSITY   (Japan)

Author keywords

Ancestral founder haplotype; Clinical severity; Compound heterozygosity; Genotype phenotype correlation

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAIN FUNCTION; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; EYE; FAMILY STUDY; FEMALE; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; INFANT; MALE; MOLECULAR GENETICS; MOTOR PERFORMANCE; MUSCULAR DYSTROPHY; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MICROSATELLITE REPEATS; MUSCULAR DYSTROPHIES; PEDIGREE; PHENOTYPE;

EID: 0034729225     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000529)92:3<184::AID-AJMG5>3.0.CO;2-N     Document Type: Article

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