PMID- 10612838
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20181130
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 15
IP  - 1
DP  - 2000 Jan
TI  - Identification of nine novel mutations in the Bruton's tyrosine kinase gene in
      X-linked agammaglobulinaemia patients.
PG  - 117
AB  - Mutations in the Bruton's tyrosine kinase (BTK ) gene are responsible for
      X-linked Agammaglobulinemia (XLA), an immunodeficiency caused by a block in B
      cell differentiation. Non Isotopic RNAse Cleavage Assay (NIRCA), followed by
      sequencing was used to screen for BTK mutations in 11 Italian XLA patients. Nine 
      novel mutations were identified: 6 missense (Y39S, L512P, L512Q, R544G, S578Y,
      E589K), one non-sense (Q260X), one frameshift (1599-1602del GCGC) and one
      in-frame insertion (2037-2038insTTTTAG), that represents the first case of
      premature stop codon introduction in the BTK coding frame. These data support the
      high molecular heterogeneity of BTK gene in XLA disease and provide new insight
      to the diagnosis and to the role of BTK domain in XLA and in B cell signal
      transduction and development. Hum Mutat 15:117, 2000.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Orlandi, P
AU  - Orlandi P
AD  - Dept. of Pediatrics, Division of Immunology and Infectious Diseases, Children's
      Hospital "Bambino Gesu", University of Rome Tor Vergata, Rome, Italy.
      Paros@Med.UniRoma2.it
FAU - Ritis, K
AU  - Ritis K
FAU - Moschese, V
AU  - Moschese V
FAU - Angelini, F
AU  - Angelini F
FAU - Arvanitidis, K
AU  - Arvanitidis K
FAU - Speletas, M
AU  - Speletas M
FAU - Sideras, P
AU  - Sideras P
FAU - Plebani, A
AU  - Plebani A
FAU - Rossi, P
AU  - Rossi P
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 2.7.10.1 (Protein-Tyrosine Kinases)
RN  - EC 2.7.10.2 (Agammaglobulinaemia Tyrosine Kinase)
RN  - EC 2.7.10.2 (BTK protein, human)
SB  - IM
MH  - Agammaglobulinaemia Tyrosine Kinase
MH  - Agammaglobulinemia/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Genetic Linkage
MH  - Humans
MH  - Infant
MH  - Italy
MH  - Mutation
MH  - Protein-Tyrosine Kinases/*genetics
MH  - *X Chromosome
EDAT- 1999/12/29 00:00
MHDA- 1999/12/29 00:01
CRDT- 1999/12/29 00:00
PHST- 1999/12/29 00:00 [pubmed]
PHST- 1999/12/29 00:01 [medline]
PHST- 1999/12/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU26>3.0.CO;2-H [pii]
AID - 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU26>3.0.CO;2-H [doi]
PST - ppublish
SO  - Hum Mutat. 2000 Jan;15(1):117. doi:
      10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU26>3.0.CO;2-H.