PMID- 10398237
OWN - NLM
STAT- MEDLINE
DCOM- 20000517
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 85
IP  - 3
DP  - 1999 Jul 30
TI  - Carpenter-Waziri syndrome results from a mutation in XNP.
PG  - 249-51
FAU - Abidi, F
AU  - Abidi F
FAU - Schwartz, C E
AU  - Schwartz CE
FAU - Carpenter, N J
AU  - Carpenter NJ
FAU - Villard, L
AU  - Villard L
FAU - Fontes, M
AU  - Fontes M
FAU - Curtis, M
AU  - Curtis M
LA  - eng
GR  - HD26202/HD/NICHD NIH HHS/United States
PT  - Letter
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Nuclear Proteins)
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  - DNA Helicases/*genetics
MH  - DNA Mutational Analysis
MH  - Family Health
MH  - Female
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation, Missense
MH  - Nuclear Proteins/*genetics
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
MH  - Syndrome
MH  - X-linked Nuclear Protein
MH  - alpha-Thalassemia/genetics
EDAT- 1999/07/09 10:00
MHDA- 2000/05/20 09:00
CRDT- 1999/07/09 10:00
PHST- 1999/07/09 10:00 [pubmed]
PHST- 2000/05/20 09:00 [medline]
PHST- 1999/07/09 10:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19990730)85:3<249::AID-AJMG12>3.0.CO;2-U [pii]
AID - 10.1002/(sici)1096-8628(19990730)85:3<249::aid-ajmg12>3.0.co;2-u [doi]
PST - ppublish
SO  - Am J Med Genet. 1999 Jul 30;85(3):249-51. doi:
      10.1002/(sici)1096-8628(19990730)85:3<249::aid-ajmg12>3.0.co;2-u.