Prenatal diagnosis of muscle-eye-brain disease

Prenatal Diagnosis

Volumn 27, Issue 1, 2007, Pages 51-54

  Balci, Burcu ^a   Morris Rosendahl, Deborah J ^b   Çelebi, Asli ^a   Talim, Beril ^a   Topaloǧlu, Haluk ^a   Dinçer, Pervin ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Muscle eye brain disease; Novel mutation; POMGNT1; Prenatal diagnosis

Indexed keywords

DNA; N ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1 ENZYME; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; DNA ISOLATION; FEMALE; FOLLOW UP; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MUSCLE EYE BRAIN DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; RECESSIVE INHERITANCE; RESTRICTION MAPPING;

ADOLESCENT; BRAIN DISEASES; CHORIONIC VILLI SAMPLING; CHROMOSOME MAPPING; CONSANGUINITY; EYE DISEASES, HEREDITARY; FEMALE; FETAL DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MUSCULAR DYSTROPHIES; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 33846457338     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1622     Document Type: Article

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