http://www.ncbi.nlm.nih.gov/genome/guide/HsChr17.shtml


Some diseases associated with chromosome 17 mutations Breast_cancer 1 Canavan_disease Miller-Dieker Lissencephaly Neurofibromatosis type 1 TP53,


http://www.ncbi.nlm.nih.gov/genome/guide/HsChrX.shtml


Adrenoleukodystrophy Duchenne Muscular_dystrophy Lowe Syndrome Norrie Disease Rett_syndrome See OMIM or Genes and Disease for additional examples


http://www.ncbi.nlm.nih.gov/genome/guide/HsChr19.shtml


2 Stanford 269 RH 3 Genethon 121 Link 4 Disease Genes Myotonic_dystrophy (DM) is the result of an expansion of a repeat sequence

and Sutherland 6 Some diseases associated with chromosome 19 mutations Acute T_cell Leukemia Diamond-Blackfan Anemia Myotonic_dystrophy See OMIM


http://www.nlm.nih.gov/databases/alerts/lung.html


. LAM is_associated with a rare genetic neurological_disorder called tuberous_sclerosis (TS.

whether patients with LAM also showed signs of tuberous_sclerosis,

LAM's connection to tuberous_sclerosis has_been_documented

including its connection to tuberous_sclerosis,


http://www.ncbi.nlm.nih.gov/genome/guide/HsChr4.shtml


5) have_cataloged recurrent chromosome aberrations associated with cancers. Chromosome 4 aberrations Disease Genes Huntington_disease is a neurodegenerative disorder affecting approximately 30,000 Americans. It was the first disorder

Some diseases associated with chromosome 4 mutations Huntington_disease Juvenile Periodontitis Wolf-Hirschhorn Syndrome Wolfram_syndrome See OMIM or Genes


http://www.ncbi.nlm.nih.gov/genome/guide/HsChr2.shtml


for Human Chr. 2 Chromosome 2 Disease Genes Some diseases associated with chromosome 2 mutations Alstrom Syndrome Holoprosencephaly 2 Tibial Muscular_dystrophy Autosomal Recessive Deafness

-9 Limb Girdle Muscular_dystrophy 2b See OMIM


http://www.ncbi.nlm.nih.gov/disease/Muscle.html


Muscle and bone Duchenne muscular_dystrophy Ellis-van_creveld_syndrome Marfan_syndrome Myotonic_dystrophy Spinal muscular_atrophy THE SKELETON provides an anchor point against

. Two diseases that originate through a defect in the muscle_cells themselves are Duchenne muscular_dystrophy (DMD) and myotonic_dystrophy (DM.

DM is another'dynamic mutation'disease, similar to Huntington_disease,


http://www.ncbi.nlm.nih.gov/disease/Signals.html


sex determination Tuberous_sclerosis Waardenburg syndrome Werner_syndrome SIGNAL TRANSDUCTION within and between cells mean that they can communicate important information


http://www.ncbi.nlm.nih.gov/genome/guide/HsChr9.shtml


9 mutations Dysautonomia Friedreich_ataxia Torsion Dystonia 1 Fanconi_anemia,


http://www.ncbi.nlm.nih.gov/genome/guide/HsChr18.shtml


Type C Tourette_syndrome See OMIM


http://www.ncbi.nlm.nih.gov/genome/guide/HsChr14.shtml


MA Some diseases associated with chromosome 14 mutations Alzheimer_disease Graves_disease Machado-joseph_disease Spastic Paraplegia 3a See OMIM for additional examples


http://www.ncbi.nlm.nih.gov/disease/Brain.html


The nervous_system Alzheimer_disease Amyotrophic_lateral_sclerosis Angelman_syndrome Charcot-marie-tooth_disease Epilepsy Essential_tremor Fragile_x_syndrome Friedreich's ataxia Huntington_disease Niemann-pick_disease

Parkinson_disease Prader-willi_syndrome Rett_syndrome Spinocerebellar atrophy Williams_syndrome THE BRAIN and nervous_system form an intricate network of electrical signals that are responsible_for coordinating muscles, the senses, speech,

while Huntington_disease, Fragile_x_syndrome and spinocerebellar atrophy are all'dynamic mutation'diseases in


http://www.ncbi.nlm.nih.gov:80/entrez/journals/active_providers.html


) Elsevier Science (ES) EMBL Reptile Database (emblrep) Emery-Dreifuss Muscular_dystrophy Mutation Database

(treeoflife) Tuberous_sclerosis Mutation Database (TSMDB) Tufts University Health Sciences Library (tuhslib) Tulane


http://www.ncbi.nlm.nih.gov/entrez/Omim/allresources.html


The BTKBASE mutation registry for X-Linked agammaglobulinemia The Cystic_fibrosis Mutation Database The Emery-Dreifuss Muscular_dystrophy Mutation

and Mutation Database The PAX6 Mutation Database The Phenylalanine_hydroxylase Locus Database The RB1 Gene_mutation Database The Tuberous_sclerosis


http://www.ncbi.nlm.nih.gov:80/entrez/journals/loprovlink.html


Taxonomy Emery-Dreifuss Muscular_dystrophy Mutation Database (EMD:

Taxonomy Tuberous_sclerosis Mutation Database (TSMDB:


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