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American Journal of Medical Genetics

Volumn 109, Issue 1, 2002, Pages 67-69

De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome [1]

(6) Karadeniz, Nilüfer a Zencirolu, Ayegül b Yavuz Gurer Y K b Enbil, Nesrin b Karadeniz, Yasemin c Topallu, Haluk d

a Neonatal Intensive Care Unit (Turkey)

b DR SAMI ULUS CHILDREN S HOSPITAL (Turkey)

c KIRIKKALE UNIVERSITY (Turkey)

d HACETTEPE UNIVERSITY (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DYSTROPHIN; LAMININ; MEROSIN; SARCOGLYCAN; SPECTRIN;

CASE REPORT; CHROMOSOME 5; CHROMOSOME 6; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; FEMALE; GENE MAPPING; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; LETTER; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DEFECT; WALKER WARBURG SYNDROME;

ABNORMALITIES, MULTIPLE; BRAIN; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, PAIR 6; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; KARYOTYPING; MUSCULAR DYSTROPHIES; SYNDROME; TRANSLOCATION, GENETIC;

EID: 0037089938 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10286 Document Type: Letter

Times cited : (4)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.