Prenatal identification of a novel R937P L1CAM missense mutation.

Genetic testing and molecular biomarkers

Volumn 13, Issue 4, 2009, Pages 515-519

  Wilson, Patrick L ^a   Kattman, Brandi Blaisdell ^a   Mulvihill, John J ^a   Li, Shibo ^a   Wilkins, Jesse ^a   Wagner, Andrew F ^a   Goodman, Jean R ^a  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NERVE CELL ADHESION MOLECULE L1;

ADULT; ARTICLE; CASE REPORT; DNA SEQUENCE; FATALITY; FEMALE; FETUS ECHOGRAPHY; GENETICS; HUMAN; HYDROCEPHALUS; MALE; MISSENSE MUTATION; PATHOLOGY; PREGNANCY; PRENATAL DIAGNOSIS; X CHROMOSOME LINKED DISORDER;

FATAL OUTCOME; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; HYDROCEPHALUS; MALE; MUTATION, MISSENSE; NEURAL CELL ADHESION MOLECULE L1; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 70350464950     PISSN: None     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0017     Document Type: Article

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