A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

Journal of Human Genetics

Volumn 51, Issue 11, 2006, Pages 1030-1036

  Cau, Milena ^a   Addis, Maria ^a   Congiu, Rita ^a   Meloni, Cristiana ^a   Cao, Antonio ^b   Santaniello, Simona ^a   Loi, Mario ^c   Emma, Francesco ^d   Zuffardi, Orsetta ^e,f   Ciccone, Roberto ^e   Sole, Gabriella ^b   Melis, Maria Antonietta ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b CNR   (Italy)

^c BROTZU HOSPITAL   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e UNIVERSITY OF PAVIA   (Italy)

^f FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Family study; Lowe syndrome; Skewed X inactivation; X chromosome inactivation

Indexed keywords

ADULT; ARTICLE; CELL PROLIFERATION; CHROMOSOME ANALYSIS; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; EMBRYO DEVELOPMENT; FAMILY STUDY; FEMALE; GENE EXPRESSION REGULATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; INHERITANCE; LOWE SYNDROME; MALE; PEDIGREE ANALYSIS; PHENOTYPE; SKEWED X CHROMOSOME INACTIVATION; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

CHROMOSOMES, HUMAN, X; CYTOGENETICS; FAMILY HEALTH; FEMALE; GENETIC MARKERS; HAPLOTYPES; HUMANS; KARYOTYPING; MALE; OCULOCEREBRORENAL SYNDROME; PEDIGREE; PHOSPHORIC MONOESTER HYDROLASES; RNA, UNTRANSLATED; SEQUENCE ANALYSIS, DNA; X CHROMOSOME INACTIVATION;

MAMMALIA;

EID: 33751268123     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0049-6     Document Type: Article

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