PMID- 10444339
OWN - NLM
STAT- MEDLINE
DCOM- 19990922
LR  - 20071115
IS  - 1096-7192 (Print)
IS  - 1096-7192 (Linking)
VI  - 67
IP  - 4
DP  - 1999 Aug
TI  - Mutations of CTNS causing intermediate cystinosis.
PG  - 283-93
AB  - Six patients with the intermediate form of cystinosis are described. Two have new
      mutations not previously described. The disease occurs due either to the
      combination of one mild mutation and one which is known to cause nephropathic
      cystinosis or to homozygosity for a predicted mild mutation. Partial phenotypic
      correction of cystinotic fibroblasts by transfection with normal cDNA or a cDNA
      derived from a mutation causing intermediate cystinosis is demonstrated.
CI  - Copyright 1999 Academic Press.
FAU - Thoene, J
AU  - Thoene J
AD  - Department of Pediatrics, University of Michigan, Ann Arbor 48109-0408, USA.
      jthoene@umich.edu
FAU - Lemons, R
AU  - Lemons R
FAU - Anikster, Y
AU  - Anikster Y
FAU - Mullet, J
AU  - Mullet J
FAU - Paelicke, K
AU  - Paelicke K
FAU - Lucero, C
AU  - Lucero C
FAU - Gahl, W
AU  - Gahl W
FAU - Schneider, J
AU  - Schneider J
FAU - Shu, S G
AU  - Shu SG
FAU - Campbell, H T
AU  - Campbell HT
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
RN  - 0 (Amino Acid Transport Systems, Neutral)
RN  - 0 (CTNS protein, human)
RN  - 0 (Glycoproteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Membrane Transport Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Amino Acid Substitution
MH  - Amino Acid Transport Systems, Neutral
MH  - Base Sequence
MH  - Cystinosis/*genetics/pathology
MH  - DNA Mutational Analysis
MH  - Family Health
MH  - Female
MH  - *Glycoproteins
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Membrane Transport Proteins
MH  - Mutation
MH  - Mutation, Missense
MH  - Pedigree
MH  - Point Mutation
MH  - Sequence Deletion
EDAT- 1999/08/13 00:00
MHDA- 1999/08/13 00:01
CRDT- 1999/08/13 00:00
PHST- 1999/08/13 00:00 [pubmed]
PHST- 1999/08/13 00:01 [medline]
PHST- 1999/08/13 00:00 [entrez]
AID - 10.1006/mgme.1999.2876 [doi]
AID - S1096-7192(99)92876-7 [pii]
PST - ppublish
SO  - Mol Genet Metab. 1999 Aug;67(4):283-93. doi: 10.1006/mgme.1999.2876.