Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

Journal of Human Genetics

Volumn 56, Issue 8, 2011, Pages 577-582

  Arai, Takashi ^a   Zhao, Meina ^b   Kanegane, Hirokazu ^b   Van Zelm, Menno C ^c   Futatani, Takeshi ^b,d   Yamada, Masafumi ^e   Ariga, Tadashi ^e   Ochs, Hans D ^d   Miyawaki, Toshio ^b   Oh Ishi, Tsutomu ^a  

^a SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^b UNIVERSITY OF TOYAMA   (Japan)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF WASHINGTON   (United States)

^e HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Alu; BTK; Mohr Tranebj rg syndrome; TIMM8A; X linked agammaglobulinemia

Indexed keywords

ADOLESCENT; ARTICLE; BTK GENE; CHILD; CHROMOSOME DELETION X; CLINICAL ARTICLE; CONTROLLED STUDY; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MOHR TRANEBJAERG SYNDROME; NUCLEOTIDE REPEAT; PERCEPTION DEAFNESS; SCHOOL CHILD; TIMM8A GENE; TRANSPOSON; X CHROMOSOME LINKED DISORDER; X LINKED AGAMMAGLOBULINEMIA;

ADOLESCENT; AGAMMAGLOBULINEMIA; ALU ELEMENTS; CHILD; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; DEAF-BLIND DISORDERS; DYSTONIA; GENE DELETION; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MEMBRANE TRANSPORT PROTEINS; OPTIC ATROPHY; PROTEIN-TYROSINE KINASES; SYNDROME; TERMINAL REPEAT SEQUENCES;

EID: 80052115943     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.61     Document Type: Article

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