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Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
HUMAN MOLECULAR GENETICS
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America
HUMAN GENETICS
Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system x(c)(-)
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1
HUMAN MOLECULAR GENETICS
Identification and characterization of YME1L1, a novel paraplegin-related gene
GENOMICS
Identification of a new EGF-repeat-containing gene from human Xp22: A candidate for developmental disorders
GENOMICS
Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane
BIOCHEMICAL JOURNAL
Cloning of the gene encoding a novel integral membrane protein, mucolipidin - and identification of the two major founder mutations causing mucolipidosis type IV
AMERICAN JOURNAL OF HUMAN GENETICS
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
AMERICAN JOURNAL OF HUMAN GENETICS
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT
NATURE GENETICS
Ocular albinism: evidence for a defect in an intracellular signal transduction system
NATURE GENETICS
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
NATURE GENETICS
MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development
HUMAN MOLECULAR GENETICS
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family
GENOMICS
Identification of a novel homolog of the Drosophila staufen protein in thechromosome 8q13-q21.1 region
GENOMICS
Identification and characterization of AFG3L2, a novel paraplegin-related gene
GENOMICS
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats
AMERICAN JOURNAL OF HUMAN GENETICS
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development
AMERICAN JOURNAL OF HUMAN GENETICS
Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes
MAMMALIAN GENOME
MOLECULAR-GENETICS OF HUMAN LEFT-RIGHT AXIS MALFORMATIONS
Modern pathology
X-LINKED SITUS ABNORMALITIES RESULT FROM MUTATIONS IN ZIC3
Nature genetics
CLINICAL AND MOLECULAR-GENETICS OF HUMAN LEFT-RIGHT AXIS DISORDERS
Molecular biology of the cell
MULTIGENIC MUTATIONS ASSOCIATED WITH COMPLEX HEART MALFORMATIONS AND RELATED SITUS ABNORMALITIES
The American journal of pathology
NODAL, LEFTY, AND HNF-3-BETA NUCLEOTIDE CHANGES ASSOCIATED WITH COMPLEX HEART-DEFECTS AND OTHER FEATURES OF LEFT-RIGHT AXIS MALFORMATIONS
American journal of human genetics
CLONING OF THE MURINE HOMOLOG OF THE OCULAR ALBINISM TYPE-1 (OA1) GENE - SEQUENCE, GENOMIC STRUCTURE, AND EXPRESSION ANALYSIS IN PIGMENT-CELLS
PCR methods and applications
A NEW REGION OF CONSERVATION IS DEFINED BETWEEN HUMAN AND MOUSE X-CHROMOSOMES
Genomics
CLONING OF THE GENE FOR OCULAR ALBINISM TYPE-1 FROM THE DISTAL SHORT ARM OF THE X-CHROMOSOME
Nature genetics
CLONING OF A HUMAN HOMOLOG OF THE XENOPUS-LAEVIS APX GENE FROM THE OCULAR ALBINISM TYPE-1 CRITICAL REGION
Human molecular genetics
ANALYSIS OF THE OA1 GENE REVEALS MUTATIONS IN ONLY 1 3 OF PATIENTS WITH X-LINKED OCULAR ALBINISM/
Human molecular genetics
GENOMIC STRUCTURE AND MUTATION ANALYSIS OF THE OCULAR ALBINISM TYPE-1(OA1) GENE
American journal of human genetics
DELETION SPANNING THE 5' ENDS OF BOTH THE COL4A5 AND COL4A6 GENES IN A PATIENT WITH ALPORTS-SYNDROME AND LEIOMYOMATOSIS
Human mutation
A YAC-BASED BINNING STRATEGY FACILITATING THE RAPID ASSEMBLY OF COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS IN XP22
Human molecular genetics
A GENE FROM THE XP22.3 REGION SHARES HOMOLOGY WITH VOLTAGE-GATED CHLORIDE CHANNELS
Human molecular genetics
A SUBMICROSCOPIC DELETION IN A PATIENT WITH ISOLATED X-LINKED OCULAR ALBINISM (OA1)
Human molecular genetics
CHARACTERIZATION AND CLONING OF THE CRITICAL REGION FOR THE MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME (MLS)
Journal of cellular biochemistry
AN EFFICIENT YAC-BASED BINNING STRATEGY FOR THE CONSTRUCTION OF MB-SCALE COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS SPANNING THE OA1 AND MLS GENES IN XP22
Cytogenetics and cell genetics
A HIGH-RESOLUTION DELETION MAP OF HUMAN CHROMOSOME-XP22
Nature genetics
THE GENES FOR X-LINKED OCULAR ALBINISM (OA1) AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGIONS
Human molecular genetics
A HIGH-RESOLUTION 30-MB DELETION MAP OF THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME
Cytogenetics and cell genetics
A HIGH-RESOLUTION 30-MEGABASE DELETION MAP OF THE DISTAL SHORT ARM OFTHE HUMAN X-CHROMOSOME
American journal of human genetics
THE GENES FOR MICROPHTHALMIA WITH LINEAR SKIN DEFECTS (MLS) AND X-LINKED OCULAR ALBINISM (OA1) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGIONS
American journal of human genetics
IDENTIFICATION OF A HUMAN X-LINKED GENE ENCODING A PUTATIVE ION-CHANNEL PROTEIN
American journal of human genetics