The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus

Journal of Medical Genetics

Volumn 35, Issue 11, 1998, Pages 901-904

  Michaelis, Ron C ^a   Du, Yang Zhu ^a   Schwartz, Charles E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

Author keywords

Cell adhesion molecules; Genotype phenotype; L1CAM; Missense mutations

Indexed keywords

CELL ADHESION MOLECULE; FIBRONECTIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DATA ANALYSIS; DISEASE SEVERITY; HUMAN; HYDROCEPHALUS; INFANT; INFANT MORTALITY; LIFESPAN; MISSENSE MUTATION; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; THUMB MALFORMATION; X CHROMOSOME LINKAGE;

EID: 0031734986     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.11.901     Document Type: Article

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