Qualitative assessment of fmr1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile x syndrome carrier and newborn screening

Genetics in Medicine

Volumn 12, Issue 3, 2010, Pages 162-173

  Hantash, Feras M ^a   Goos, Dana G ^a   Tsao, David ^a   Quan, Franklin ^a   Buller Burckle, Arlene ^a   Peng, Mei ^a   Jarvis, Michael ^a   Sun, Weimin ^a   Strom, Charles M ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

Carrier screen; CGG repeat; FMR1 gene; Fragile X; Newborn screen

Indexed keywords

DNA; FMR1 PROTEIN, HUMAN; FRAGILE X MENTAL RETARDATION PROTEIN;

5' UNTRANSLATED REGION; ARTICLE; BIOMEDICAL TECHNOLOGY ASSESSMENT; CAPILLARY ELECTROPHORESIS; FEMALE; FRAGILE X SYNDROME; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HUMAN; MALE; MOSAICISM; MUTATION; NEWBORN; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT;

5' UNTRANSLATED REGIONS; BLOTTING, SOUTHERN; DNA; ELECTROPHORESIS, CAPILLARY; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC TESTING; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MOSAICISM; MUTATION; NEONATAL SCREENING; POLYMERASE CHAIN REACTION; TECHNOLOGY ASSESSMENT, BIOMEDICAL; TRINUCLEOTIDE REPEATS;

EID: 78751627969     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181d0d40e     Document Type: Article

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