PMID- 10417298
OWN - NLM
STAT- MEDLINE
DCOM- 19990820
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 2
DP  - 1999 Aug
TI  - Mutation of the XNP/ATR-X gene in a family with severe mental retardation,
      spastic paraplegia and skewed pattern of X inactivation: demonstration that the
      mutation is involved in the inactivation bias.
PG  - 558-62
FAU - Lossi, A M
AU  - Lossi AM
FAU - Millan, J M
AU  - Millan JM
FAU - Villard, L
AU  - Villard L
FAU - Orellana, C
AU  - Orellana C
FAU - Cardoso, C
AU  - Cardoso C
FAU - Prieto, F
AU  - Prieto F
FAU - Fontes, M
AU  - Fontes M
FAU - Martinez, F
AU  - Martinez F
LA  - eng
PT  - Letter
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Transcription Factors)
RN  - EC 3.6.4.- (DNA Helicases)
RN  - EC 3.6.4.12 (ATRX protein, human)
RN  - EC 3.6.4.12 (X-linked Nuclear Protein)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Bias
MH  - *DNA Helicases
MH  - DNA Mutational Analysis
MH  - DNA-Binding Proteins/chemistry/*genetics
MH  - *Dosage Compensation, Genetic
MH  - Female
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Nuclear Proteins/chemistry/*genetics
MH  - Paraplegia/*genetics
MH  - Pedigree
MH  - Protein Structure, Secondary
MH  - Transcription Factors/chemistry/*genetics
MH  - X-linked Nuclear Protein
PMC - PMC1377954
EDAT- 1999/07/27 10:00
MHDA- 2000/03/21 09:00
CRDT- 1999/07/27 10:00
PHST- 1999/07/27 10:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/07/27 10:00 [entrez]
AID - S0002-9297(07)62072-2 [pii]
AID - 10.1086/302499 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Aug;65(2):558-62. doi: 10.1086/302499.