Lowe Syndrome Mutation Database

Lowe Syndrome Mutation Database

Database Submission Form

Data may be submitted to Lowe Syndrome mutation database by completing the form below. Information submitted will be reviewed before being added to the database.

*Required Fields

*Patient ID Number:
*Mutation Type:
*Exon Intron Flag	Exon Intron
*Exon/Intron Number:
cDNA Number (using translation start site=1):
*Mutation (e.g. "266C->G" or "140delG"):
Amino acid containing mutation, or first amino acid disrupted by mutation (first methionine residue counts as position 1):
Result of Mutation:
mRNA Detected?:
Enzyme Assay	Normal Deficient
Western Blot:

Clinical Data

Family History?:	YES NO
Ethnic Origin:
Affected Relatives And Relationship:

Congenital Cataracts:	YES NO
Fanconi Syndrome:	YES NO
Developmental Delay:	YES NO

Submitter Data

*Referring Investigator:
*Referring Investigator Email:
*Referring Laboratory:
*Reference: (Enter 'NONE' if no publication)
Comments:

*Required Fields

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