A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome

American Journal of Human Genetics

Volumn 51, Issue 2, 1992, Pages 299-306

  Wohrle, D ^a   Kotzot, D ^a   Hirst, M C ^a   Manca, A ^a   Korn, B ^a   Schmidt, A ^a   Barbi, G ^a   Rott, H D ^a   Poustka, A ^a   Davies, K E ^a   Steinbach, P ^a  

^a UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME XQ; DELETION MUTANT; EXON; FRAGILE X SYNDROME; GENE FUNCTION; HUMAN; HUMAN CELL; MALE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL;

BASE SEQUENCE; CASE REPORT; CHILD; CHROMOSOME DELETION; DNA; DNA PROBES; FEMALE; FRAGILE X SYNDROME; HUMAN; MALE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T;

EID: 0026781016     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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